L15V (p.Leu15Val) variant of SGCA (Alpha-sarcoglycan)
L15V (p.Leu15Val) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- ExAC rs748856279
- TOPMed rs748856279
- gnomAD rs748856279
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.34
- CADD 11.60
- PolyPhen-2 0.77
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available