W26C (p.Trp26Cys) variant of ACTN2 (Alpha-actinin-2)
W26C (p.Trp26Cys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
W26C (p.Trp26Cys) variant details
- p.Trp26Cys
- gnomAD 1-236686751-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.53
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available