W36C (p.Trp36Cys) variant of ACTN2 (Alpha-actinin-2)
W36C (p.Trp36Cys) in ACTN2 (Alpha-actinin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
W36C (p.Trp36Cys) variant details
- p.Trp36Cys
- gnomAD 1-236686781-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.52
- CADD 33.00
- PolyPhen-2 0.20
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available