P19A (p.Pro19Ala) variant of KCNQ4 (P56696)
P19A (p.Pro19Ala) 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.
P19A (p.Pro19Ala) variant details
- p.Pro19Ala
- gnomAD 1-40784148-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- MetaLR 0.78
- MetaSVM 0.22
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available