A3S (p.Ala3Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3S (p.Ala3Ser) 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.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD 11-2445105-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.84
- MetaSVM 0.40
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available