F36Y (p.Phe36Tyr) variant of SGCA (Alpha-sarcoglycan)
F36Y (p.Phe36Tyr) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
F36Y (p.Phe36Tyr) variant details
- p.Phe36Tyr
- gnomAD 17-50167437-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.78
- CADD 26.10
- 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