D15Y (p.Asp15Tyr) variant of ACTN2 (Alpha-actinin-2)
D15Y (p.Asp15Tyr) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D15Y (p.Asp15Tyr) variant details
- p.Asp15Tyr
- gnomAD 1-236686716-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available