G8V (p.Gly8Val) variant of KCNQ5 (Q9NR82)
G8V (p.Gly8Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 6-72622212-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available