L17V (p.Leu17Val) variant of HLA-B (P01889)
L17V (p.Leu17Val) 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*35:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- Ensembl rs1401245855
- Benign
- in allele B*13:02, allele B*18:01, allele B*27:01, allele B*27:05, allele B*35:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.24
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.02
- 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:BANTUSOUTHAFRICA population (allele frequency 0.5)
- 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)