R30K (p.Arg30Lys) variant of HLA-C (P10321)
R30K (p.Arg30Lys) 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*01:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- rs1131151
- cosmic curated COSV66111
- UniProt VAR 082414
- 1000Genomes rs1131151
- Benign
- in allele C*01:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.14
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Benign (in allele C*01:02)
- UniProt: Benign (in allele C*01:02)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.083)
- Structural context available
- Cited in: The molecular basis for reactivity of anti-Cw1 and anti-Cw3 alloantisera with HLA-B46 haplotypes. (PMID 1384166)