G21V (p.Gly21Val) variant of KCNQ5 (Q9NR82)
G21V (p.Gly21Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- gnomAD 6-72622251-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available