I21V (p.Ile21Val) variant of ACTN2 (Alpha-actinin-2)
I21V (p.Ile21Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I21V (p.Ile21Val) variant details
- p.Ile21Val
- gnomAD 1-236686734-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.10
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available