L11L (p.Leu11Leu) variant of SGCA (Alpha-sarcoglycan)
L11L (p.Leu11Leu) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- rs762704751
- gnomAD 17-50166073-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 8.21
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available