D33Y (p.Asp33Tyr) variant of HLA-C (P10321)
D33Y (p.Asp33Tyr) in HLA-C (P10321) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- rs9264668
- ClinGen CA3710972
- cosmic curated COSV66119
- ClinVar RCV001656222
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.29
- CADD 0.00
- PolyPhen-2 0.10
- SIFT 1.00
- ClinVar: Benign (not provided)
- EBI: Benign (in allele C*02:02, allele C*03:02, allele C*03:04, allele C*05:0)
- UniProt: Benign (in allele C*02:02, allele C*03:02, allele C*03:04, allele C*05:0)
- Most common in the HGDP:NAXI population (allele frequency 0.5)
- Structural context available
- Cited in: Correction of HLA-Cw*0501 and identification of HLA-Cw*0711. (PMID 10372547)
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)