D29Y (p.Asp29Tyr) variant of ACTN2 (Alpha-actinin-2)
D29Y (p.Asp29Tyr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- gnomAD 1-236686758-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.40
- CADD 32.00
- PolyPhen-2 0.58
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available