G11D (p.Gly11Asp) variant of KCNQ5 (Q9NR82)
G11D (p.Gly11Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- gnomAD 6-72622221-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available