L41S (p.Leu41Ser) variant of SGCD (Delta-sarcoglycan)
L41S (p.Leu41Ser) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L41S (p.Leu41Ser) variant details
- p.Leu41Ser
- gnomAD 5-156344604-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 12.60
- Population evidence available
- Structural context available
- Literature evidence available