Y33H (p.Tyr33His) variant of HLA-B (P01889)
Y33H (p.Tyr33His) in HLA-B (P01889) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of HLA-B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Y33H (p.Tyr33His) variant details
- p.Tyr33His
- rs2596492
- ClinGen CA3711895
- cosmic curated COSV69520
- ClinVar RCV003974709
- Likely benign
- HLA-B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.23
- CADD 1.84
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Likely benign (HLA-B-related disorder)
- EBI: Benign (in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0)
- UniProt: Benign (in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0)
- Most common in the 1KG:CHS population (allele frequency 0.27)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: The B*4002 allele encodes the B61 antigen: B40* is identical to B61. (PMID 1362296)