L40W (p.Leu40Trp) variant of SGCA (Alpha-sarcoglycan)
L40W (p.Leu40Trp) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L40W (p.Leu40Trp) variant details
- p.Leu40Trp
- gnomAD rs1233096399
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.88
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available