G7C (p.Gly7Cys) variant of ACTN2 (Alpha-actinin-2)
G7C (p.Gly7Cys) 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, published literature, and structural context.
G7C (p.Gly7Cys) variant details
- p.Gly7Cys
- gnomAD 1-236686692-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.34
- CADD 24.50
- PolyPhen-2 0.13
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available