S48* (p.Ser48Ter) variant of HLA-C (P10321)
S48* (p.Ser48Ter) in HLA-C (P10321) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S48* (p.Ser48Ter) variant details
- p.Ser48Ter
- Ensembl rs1761398169
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 31.00
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available