L10V (p.Leu10Val) variant of HLA-A (P04439)
L10V (p.Leu10Val) in HLA-A (P04439) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele A*02:01, allele A*02:05, allele A*23:01, allele A*24:02, allele A*25:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- cosmic curated COSV65136
- 1000Genomes rs1143146
- ESP rs1143146
- ExAC rs1143146
- Benign
- in allele A*02:01, allele A*02:05, allele A*23:01, allele A*24:02, allele A*25:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.0734
- REVEL 0.02
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign (in allele A*02:01, allele A*02:05, allele A*23:01, allele A*24:0)
- UniProt: Benign (in allele A*02:01, allele A*02:05, allele A*23:01, allele A*24:0)
- Most common in the HGDP:OROQEN population (allele frequency 0.5)
- Structural context available
- Cited in: Distinctive HLA-A,B antigens of black populations formed by interallelic conversion. (PMID 1431115)
- Cited in: Molecular definition of an elusive third HLA-A9 molecule: HLA-A9.3. (PMID 1729171)