L41L (p.Leu41Leu) variant of SGCD (Delta-sarcoglycan)
L41L (p.Leu41Leu) in SGCD (Delta-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L41L (p.Leu41Leu) variant details
- p.Leu41Leu
- rs200670993
- gnomAD 5-156344608-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 8.29
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)