G33R (p.Gly33Arg) variant of SGCA (Alpha-sarcoglycan)
G33R (p.Gly33Arg) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- gnomAD rs1280326054
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available