R31G (p.Arg31Gly) variant of KCNQ5 (Q9NR82)
R31G (p.Arg31Gly) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- gnomAD 6-72622280-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available