W75S (p.Trp75Ser) variant of SGCA (Alpha-sarcoglycan)
W75S (p.Trp75Ser) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
W75S (p.Trp75Ser) variant details
- p.Trp75Ser
- gnomAD 17-50167648-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available