R7Q (p.Arg7Gln) variant of HLA-C (P10321)
R7Q (p.Arg7Gln) 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*17:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs41548123
- cosmic curated COSV66110
- UniProt VAR 082408
- 1000Genomes rs41548123
- Benign
- in allele C*17:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.13
- CADD 15.60
- PolyPhen-2 0.03
- SIFT 0.10
- EBI: Benign (in allele C*17:01)
- UniProt: Benign (in allele C*17:01)
- Most common in the 1KG:YRI population (allele frequency 0.12)
- Structural context available
- Cited in: The complete primary structure of Cw*1701 reveals a highly divergent HLA class I molecule. (PMID 9098935)
- Cited in: Cw*1701 defines a divergent african HLA-C allelic lineage. (PMID 9211742)