K57I (p.Lys57Ile) variant of SGCD (Delta-sarcoglycan)
K57I (p.Lys57Ile) in SGCD (Delta-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
K57I (p.Lys57Ile) variant details
- p.Lys57Ile
- gnomAD 5-156344617-T-TTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 26.40
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available