D33Y (p.Asp33Tyr) variant of ACTN2 (Alpha-actinin-2)
D33Y (p.Asp33Tyr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- cosmic curated COSV63971
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.54
- CADD 32.00
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available