R38W (p.Arg38Trp) variant of HLA-C (P10321)
R38W (p.Arg38Trp) 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*04:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- rs41542423
- cosmic curated COSV66111
- UniProt VAR 082419
- 1000Genomes rs41542423
- Benign
- in allele C*04:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.19
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Benign (in allele C*04:01)
- UniProt: Benign (in allele C*04:01)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.5)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: Unusual HLA-B alleles in two tribes of Brazilian Indians. (PMID 1317015)