Q25K (p.Gln25Lys) variant of SGCA (Alpha-sarcoglycan)
Q25K (p.Gln25Lys) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q25K (p.Gln25Lys) variant details
- p.Gln25Lys
- gnomAD rs1408325793
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.41
- CADD 11.70
- PolyPhen-2 0.20
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available