R7C (p.Arg7Cys) variant of KCNQ4 (P56696)
R7C (p.Arg7Cys) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- gnomAD 1-40784112-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- MetaLR 0.83
- MetaSVM 0.31
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.2e-06)
- Structural context available
- Literature evidence available