A2S (p.Ala2Ser) variant of KCNQ4 (P56696)
A2S (p.Ala2Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 1-40784097-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- MetaLR 0.80
- MetaSVM 0.43
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available