V52I (p.Val52Ile) variant of SGCA (Alpha-sarcoglycan)
V52I (p.Val52Ile) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- TOPMed rs1372589273
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.24
- CADD 0.36
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available