G12V (p.Gly12Val) variant of KCNQ5 (Q9NR82)
G12V (p.Gly12Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 6-72622224-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.52
- CADD 24.30
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available