K57S (p.Lys57Ser) variant of SGCD (Delta-sarcoglycan)
K57S (p.Lys57Ser) 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.
K57S (p.Lys57Ser) variant details
- p.Lys57Ser
- gnomAD 5-156344656-CAA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available