K57* (p.Lys57Ter) variant of SGCD (Delta-sarcoglycan)
K57* (p.Lys57Ter) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K57* (p.Lys57Ter) variant details
- p.Lys57Ter
- gnomAD 5-156344657-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 42.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available