R20S (p.Arg20Ser) variant of KCNQ4 (P56696)
R20S (p.Arg20Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- gnomAD 1-40784151-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.29
- MetaLR 0.84
- MetaSVM 0.68
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available