E10V (p.Glu10Val) variant of KCNQ5 (Q9NR82)
E10V (p.Glu10Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- gnomAD 6-72622218-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available