G10V (p.Gly10Val) variant of KCNQ4 (P56696)
G10V (p.Gly10Val) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- gnomAD 1-40784122-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.49
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.56
- Most common in the REMAINING population (allele frequency 4.1e-05)
- Structural context available
- Literature evidence available