A4V (p.Ala4Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4V (p.Ala4Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD rs1205817966
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 6.53
- SIFT 1.00
- Population evidence available
- Structural context available