Y33N (p.Tyr33Asn) variant of HLA-B (P01889)
Y33N (p.Tyr33Asn) in HLA-B (P01889) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:01, allele B*40:0. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
Y33N (p.Tyr33Asn) variant details
- p.Tyr33Asn
- 1000Genomes rs2596492
- ESP rs2596492
- ExAC rs2596492
- gnomAD rs2596492
- Likely benign
- in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:01, allele B*40:0
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.22
- CADD 1.51
- PolyPhen-2 0.11
- SIFT 0.19
- EBI: Likely benign (in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0)
- UniProt: Likely benign (in allele B*18:01, allele B*27:01, allele B*27:05, allele B*37:0)
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available