KCNQ1 Variant A102P

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A102P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

14%

1/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

A102P has not been reported in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-1.47 0.729 4 0.727 10

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 0 0 0 –
Variant features alone – 15 9 1 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near A102P.
Neighbour residue Distance (Å) Observed variants
102 0
101 4
103 4
100 5
104 5 T104A, T104I,
99 7 P99R, P99Q,
105 7
98 8 R98H,
106 8
97 8
107 8 Q107H, Q107H,
96 9 T96R,
108 9 G108S,
95 10 S95G,
109 10 R109C, R109L,
94 11
110 11 V110I,
93 11 I93V,
111 11 Y111C,
92 12 S92P,
112 12
91 13 V91L
113 13
90 13
114 13
89 14 P89T, P89L,
115 14 E115A, E115G,
88 14 D88E, D88E,
116 14
87 15
117 15 P117L,