V13D (p.Val13Asp) variant of SGCA (Alpha-sarcoglycan)
V13D (p.Val13Asp) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V13D (p.Val13Asp) variant details
- p.Val13Asp
- TOPMed rs1354641049
- gnomAD rs1354641049
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.54
- CADD 16.60
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available