S48A (p.Ser48Ala) variant of HLA-C (P10321)
S48A (p.Ser48Ala) 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*04:01, allele C*05:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S48A (p.Ser48Ala) variant details
- p.Ser48Ala
- rs707911
- cosmic curated COSV66110
- UniProt VAR 082422
- 1000Genomes rs707911
- Benign
- in allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:01, allele C*05:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0)
- UniProt: Benign (in allele C*02:02, allele C*03:02, allele C*03:04, allele C*04:0)
- Most common in the HGDP:PAPUANHIGHLANDS 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)