I4V (p.Ile4Val) variant of ACTN2 (Alpha-actinin-2)
I4V (p.Ile4Val) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- gnomAD 1-236686683-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.94
- Population evidence available
- Structural context available
- Literature evidence available