V9L (p.Val9Leu) variant of HLA-B (P01889)
V9L (p.Val9Leu) 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*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs1050462
- cosmic curated COSV69520
- UniProt VAR 082485
- 1000Genomes rs1050462
- Benign
- in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.30
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:0)
- UniProt: Benign (in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:0)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 1)
- Structural context available
- Cited in: Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal… (PMID 39744943)
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)