G12D (p.Gly12Asp) variant of KCNQ5 (Q9NR82)
G12D (p.Gly12Asp) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- gnomAD 6-72622224-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.54
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available