A4S (p.Ala4Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4S (p.Ala4Ser) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 11-2445108-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.88
- MetaSVM 0.54
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available