D54G (p.Asp54Gly) variant of HLA-B (P01889)
D54G (p.Asp54Gly) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D54G (p.Asp54Gly) variant details
- p.Asp54Gly
- rs9266183
- ClinGen CA3711866
- ClinVar RCV003972149
- UniProt VAR 082495
- Likely benign
- HLA-B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.15
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (HLA-B-related disorder)
- EBI: Benign (in allele B*18:01)
- UniProt: Benign (in allele B*18:01)
- Most common in the HGDP:BASQUE population (allele frequency 0.21)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: Diversity and diversification of HLA-A,B,C alleles. (PMID 2715640)