L48L (p.Leu48Leu) variant of SGCA (Alpha-sarcoglycan)
L48L (p.Leu48Leu) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- gnomAD 17-50167474-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0958
- CADD 2.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available