V13A (p.Val13Ala) variant of ACTN2 (Alpha-actinin-2)
V13A (p.Val13Ala) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- gnomAD 1-236686711-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available