R7P (p.Arg7Pro) variant of KCNQ4 (P56696)
R7P (p.Arg7Pro) 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.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- gnomAD 1-40784113-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.44
- MetaLR 0.79
- MetaSVM 0.45
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available