R7H (p.Arg7His) variant of KCNQ4 (P56696)
R7H (p.Arg7His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- TOPMed rs1248234130
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.30
- MetaLR 0.81
- MetaSVM 0.51
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00051)
- Structural context available