R28R (p.Arg28Arg) variant of ACTN2 (Alpha-actinin-2)
R28R (p.Arg28Arg) in ACTN2 (Alpha-actinin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R28R (p.Arg28Arg) variant details
- p.Arg28Arg
- gnomAD 1-236686757-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available