L72L (p.Leu72Leu) variant of SGCA (Alpha-sarcoglycan)
L72L (p.Leu72Leu) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L72L (p.Leu72Leu) variant details
- p.Leu72Leu
- rs749873696
- gnomAD 17-50167640-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 12.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available