A21S (p.Ala21Ser) variant of KCNQ4 (P56696)
A21S (p.Ala21Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- gnomAD 1-40784154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- MetaLR 0.76
- MetaSVM 0.25
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available