G12R (p.Gly12Arg) variant of KCNQ4 (P56696)
G12R (p.Gly12Arg) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- gnomAD 1-40784127-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.38
- MetaLR 0.77
- MetaSVM 0.54
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available