L56L (p.Leu56Leu) variant of SGCD (Delta-sarcoglycan)
L56L (p.Leu56Leu) in SGCD (Delta-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.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 5-156344656-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 8.86
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available