S5A (p.Ser5Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)

Name: KCNQ1 S5A (p.Ser5Ala) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-05-15
License: https://catvariant.com/terms-of-use

S5A (p.Ser5Ala) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.

S5A (p.Ser5Ala) variant details

p.Ser5Ala
gnomAD 11-2445111-T-G
Missense
Variant Prioritization Score for Impact Estimate 0.346
REVEL 0.36
ESM-1b 0.00
AlphaMissense 0.07
MetaLR 0.88
MetaSVM 0.54
CADD 21.90
Population evidence available
Structural context available
Literature evidence available