G30W (p.Gly30Trp) variant of KCNQ5 (Q9NR82)
G30W (p.Gly30Trp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G30W (p.Gly30Trp) variant details
- p.Gly30Trp
- gnomAD 6-72622277-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.53
- CADD 28.70
- PolyPhen-2 0.63
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available