R28H (p.Arg28His) variant of ACTN2 (Alpha-actinin-2)
R28H (p.Arg28His) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- gnomAD 1-236686756-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.36
- CADD 27.10
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available