A23V (p.Ala23Val) variant of SGCA (Alpha-sarcoglycan)
A23V (p.Ala23Val) 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 0.60 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- ExAC rs760528436
- gnomAD rs760528436
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.48
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available