S48A (p.Ser48Ala) variant of HLA-B (P01889)
S48A (p.Ser48Ala) in HLA-B (P01889) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele B*15:01, allele B*35:01, allele B*46:01, allele B*51:01, allele B*52:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S48A (p.Ser48Ala) variant details
- p.Ser48Ala
- rs713031
- cosmic curated COSV69521
- UniProt VAR 082493
- 1000Genomes rs713031
- Benign
- in allele B*15:01, allele B*35:01, allele B*46:01, allele B*51:01, allele B*52:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.26
- CADD 8.94
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele B*15:01, allele B*35:01, allele B*46:01, allele B*51:0)
- UniProt: Benign (in allele B*15:01, allele B*35:01, allele B*46:01, allele B*51:0)
- Most common in the HGDP:OROQEN population (allele frequency 1)
- Structural context available
- Cited in: Diversity of HLA-B17 alleles and haplotypes in East Asians and a novel Cw6 allele (Cw*0604) associated with B*5701. (PMID 10395103)
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)