L15del (p.Leu15del) variant of SGCA (Alpha-sarcoglycan)
L15del (p.Leu15del) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L15del (p.Leu15del) variant details
- rs1345929320
- gnomAD 17-50167369-TCTC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available