D27V (p.Asp27Val) variant of ACTN2 (Alpha-actinin-2)
D27V (p.Asp27Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D27V (p.Asp27Val) variant details
- p.Asp27Val
- gnomAD 1-236686753-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.46
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available