A13V (p.Ala13Val) variant of KCNQ5 (Q9NR82)
A13V (p.Ala13Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- gnomAD 6-72622227-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.47
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available