Y62C (p.Tyr62Cys) variant of SGCA (Alpha-sarcoglycan)
Y62C (p.Tyr62Cys) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y62C (p.Tyr62Cys) variant details
- p.Tyr62Cys
- gnomAD 17-50167609-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.87
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available