R31H (p.Arg31His) variant of KCNQ5 (Q9NR82)
R31H (p.Arg31His) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R31H (p.Arg31His) variant details
- p.Arg31His
- gnomAD 6-72622281-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.44
- CADD 22.70
- PolyPhen-2 0.15
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available