W7G (p.Trp7Gly) variant of SGCA (Alpha-sarcoglycan)
W7G (p.Trp7Gly) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
W7G (p.Trp7Gly) variant details
- p.Trp7Gly
- ExAC rs749990267
- gnomAD rs749990267
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.65
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available