D33N (p.Asp33Asn) variant of HLA-C (P10321)
D33N (p.Asp33Asn) 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 0.11 / 1. The record also includes population frequency data and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- 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 0.111
- REVEL 0.15
- CADD 0.00
- PolyPhen-2 0.22
- SIFT 0.21
- 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)
- Population evidence available
- Structural context available