S16C (p.Ser16Cys) variant of SGCD (Delta-sarcoglycan)
S16C (p.Ser16Cys) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- rs1219744518
- gnomAD 5-156344532-GCT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 24.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available