A23G (p.Ala23Gly) variant of SGCA (Alpha-sarcoglycan)
A23G (p.Ala23Gly) in SGCA (Alpha-sarcoglycan) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- ExAC rs760528436
- gnomAD rs760528436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.39
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available