G21D (p.Gly21Asp) variant of KCNQ5 (Q9NR82)
G21D (p.Gly21Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- gnomAD 6-72622251-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.44
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available