Y33D (p.Tyr33Asp) variant of HLA-B (P01889)
Y33D (p.Tyr33Asp) in HLA-B (P01889) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele B*08:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Y33D (p.Tyr33Asp) variant details
- p.Tyr33Asp
- rs2596492
- cosmic curated COSV69520
- UniProt VAR 082489
- 1000Genomes rs2596492
- Benign
- in allele B*08:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.25
- CADD 1.61
- PolyPhen-2 0.01
- SIFT 0.21
- EBI: Benign (in allele B*08:01)
- UniProt: Benign (in allele B*08:01)
- Most common in the HGDP:SINDHI population (allele frequency 0.5)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid… (PMID 22286218)