D33V (p.Asp33Val) variant of ACTN2 (Alpha-actinin-2)
D33V (p.Asp33Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D33V (p.Asp33Val) variant details
- p.Asp33Val
- gnomAD 1-236686771-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.57
- CADD 31.00
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available