R28L (p.Arg28Leu) variant of ACTN2 (Alpha-actinin-2)
R28L (p.Arg28Leu) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 1-236686756-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.47
- CADD 32.00
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available