S48T (p.Ser48Thr) variant of HLA-B (P01889)
S48T (p.Ser48Thr) 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*13:02, allele B*27:01, allele B*27:05, allele B*40:01, allele B*40:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S48T (p.Ser48Thr) variant details
- p.Ser48Thr
- Ensembl rs796133251
- Benign
- in allele B*13:02, allele B*27:01, allele B*27:05, allele B*40:01, allele B*40:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.32
- CADD 8.87
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Benign (in allele B*13:02, allele B*27:01, allele B*27:05, allele B*40:0)
- UniProt: Benign (in allele B*13:02, allele B*27:01, allele B*27:05, allele B*40:0)
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.5)
- Structural context available
- Cited in: Cloning and sequencing full-length HLA-B and -C genes. (PMID 12622774)
- Cited in: The B*4002 allele encodes the B61 antigen: B40* is identical to B61. (PMID 1362296)