C44* (p.Cys44Ter) variant of HLA-DPB1 (P04440)
C44* (p.Cys44Ter) in HLA-DPB1 (P04440) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in allele DPB1*26:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C44* (p.Cys44Ter) variant details
- p.Cys44Ter
- NCI-TCGA Cosmic COSV6960
- TOPMed rs1189537940
- gnomAD rs1189537940
- Variant assessed as somatic; high impact.
- in allele DPB1*26:02
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.788
- CADD 23.60
- UniProt: Variant assessed as somatic; high impact. (in allele DPB1*26:02)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available