R45H (p.Arg45His) variant of HLA-C (P10321)
R45H (p.Arg45His) in HLA-C (P10321) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele C*02:02, allele C*03:02, allele C*03:04 and allele C*15:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- rs1050437
- cosmic curated COSV66110
- UniProt VAR 082421
- 1000Genomes rs1050437
- Benign
- in allele C*02:02, allele C*03:02, allele C*03:04 and allele C*15:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.14
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Benign (in allele C*02:02, allele C*03:02, allele C*03:04 and allele C*1)
- UniProt: Benign (in allele C*02:02, allele C*03:02, allele C*03:04 and allele C*1)
- Most common in the HGDP:DAUR population (allele frequency 0.17)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes. (PMID 1384166)