A35S (p.Ala35Ser) variant of HLA-C (P10321)
A35S (p.Ala35Ser) 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*04:01 and allele C*14:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs1050445
- cosmic curated COSV66109
- UniProt VAR 082418
- 1000Genomes rs1050445
- Benign
- in allele C*01:02, allele C*04:01 and allele C*14:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.19
- CADD 2.86
- PolyPhen-2 0.05
- SIFT 0.33
- EBI: Benign (in allele C*01:02, allele C*04:01 and allele C*14:02)
- UniProt: Benign (in allele C*01:02, allele C*04:01 and allele C*14:02)
- Most common in the 1KG:CDX population (allele frequency 0.22)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: Unusual HLA-B alleles in two tribes of Brazilian Indians. (PMID 1317015)