V12L (p.Val12Leu) variant of SGCA (Alpha-sarcoglycan)
V12L (p.Val12Leu) 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 0.23 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ExAC rs766209304
- TOPMed rs766209304
- gnomAD rs766209304
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.33
- CADD 2.90
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available