A4S (p.Ala4Ser) variant of KCNQ4 (P56696)
A4S (p.Ala4Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 1-40784103-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- MetaLR 0.79
- MetaSVM 0.33
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available