V8A (p.Val8Ala) variant of ACTN2 (Alpha-actinin-2)
V8A (p.Val8Ala) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 1-236686696-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available