W7C (p.Trp7Cys) variant of SGCA (Alpha-sarcoglycan)
W7C (p.Trp7Cys) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
W7C (p.Trp7Cys) variant details
- p.Trp7Cys
- gnomAD 17-50166061-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.69
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available