L49L (p.Leu49Leu) variant of SGCD (Delta-sarcoglycan)
L49L (p.Leu49Leu) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs774295723
- gnomAD 5-156344635-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 8.88
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available