A8T (p.Ala8Thr) variant of HLA-C (P10321)
A8T (p.Ala8Thr) 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, allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0. 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.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs2308525
- cosmic curated COSV66117
- UniProt VAR 082409
- 1000Genomes rs2308525
- Benign
- in allele C*01:02, allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.28
- CADD 1.67
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele C*01:02, allele C*02:02, allele C*03:02, allele C*03:0)
- UniProt: Benign (in allele C*01:02, allele C*02:02, allele C*03:02, allele C*03:0)
- Most common in the HGDP:UYGUR population (allele frequency 1)
- 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)