A2S (p.Ala2Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2S (p.Ala2Ser) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-2445102-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.86
- MetaSVM 0.63
- CADD 15.40
- Population evidence available
- Structural context available
- Literature evidence available