R31L (p.Arg31Leu) variant of KCNQ5 (Q9NR82)
R31L (p.Arg31Leu) in KCNQ5 (Q9NR82) 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.
R31L (p.Arg31Leu) variant details
- p.Arg31Leu
- gnomAD 6-72622281-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.53
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available