G7D (p.Gly7Asp) variant of ACTN2 (Alpha-actinin-2)
G7D (p.Gly7Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- Ensembl rs2102851232
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available