W26R (p.Trp26Arg) variant of ACTN2 (Alpha-actinin-2)
W26R (p.Trp26Arg) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
W26R (p.Trp26Arg) variant details
- p.Trp26Arg
- gnomAD 1-236686749-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available