G12C (p.Gly12Cys) variant of KCNQ4 (P56696)
G12C (p.Gly12Cys) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- gnomAD 1-40784127-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.40
- MetaLR 0.78
- MetaSVM 0.51
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available