G28D (p.Gly28Asp) variant of KCNQ5 (Q9NR82)
G28D (p.Gly28Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G28D (p.Gly28Asp) variant details
- p.Gly28Asp
- gnomAD 6-72622272-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.50
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available