V36M (p.Val36Met) variant of HLA-B (P01889)
V36M (p.Val36Met) 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, allele B*13:02, allele B*15:01, allele B*35:01, allele B*40:0. 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.
V36M (p.Val36Met) variant details
- p.Val36Met
- rs1050486
- cosmic curated COSV69520
- UniProt VAR 082492
- 1000Genomes rs1050486
- Benign
- in allele B*08:01, allele B*13:02, allele B*15:01, allele B*35:01, allele B*40:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.15
- CADD 15.60
- PolyPhen-2 0.02
- SIFT 0.06
- EBI: Benign (in allele B*08:01, allele B*13:02, allele B*15:01, allele B*35:0)
- UniProt: Benign (in allele B*08:01, allele B*13:02, allele B*15:01, allele B*35:0)
- Most common in the HGDP:SINDHI population (allele frequency 1)
- Structural context available
- Cited in: Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701. (PMID 10395103)
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)