I4L (p.Ile4Leu) variant of ACTN2 (Alpha-actinin-2)
I4L (p.Ile4Leu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I4L (p.Ile4Leu) variant details
- p.Ile4Leu
- gnomAD 1-236686683-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available