I4R (p.Ile4Arg) variant of ACTN2 (Alpha-actinin-2)
I4R (p.Ile4Arg) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I4R (p.Ile4Arg) variant details
- p.Ile4Arg
- gnomAD 1-236686684-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available