A35D (p.Ala35Asp) variant of ACTN2 (Alpha-actinin-2)
A35D (p.Ala35Asp) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A35D (p.Ala35Asp) variant details
- p.Ala35Asp
- TOPMed rs1665885927
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.31
- CADD 24.60
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available