D33H (p.Asp33His) variant of HLA-C (P10321)
D33H (p.Asp33His) 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, allele C*05:01, allele C*08:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- 1000Genomes rs9264668
- ESP rs9264668
- ExAC rs9264668
- gnomAD rs9264668
- Benign
- in allele C*02:02, allele C*03:02, allele C*03:04, allele C*05:01, allele C*08:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.95
- SIFT 0.52
- 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 African/African-American population (allele frequency 0.00022)
- Structural context available