E98D (p.Glu98Asp) variant of HLA-DQB1 (P01920)
E98D (p.Glu98Asp) in HLA-DQB1 (P01920) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E98D (p.Glu98Asp) variant details
- p.Glu98Asp
- rs9274390
- cosmic curated COSV66569
- UniProt VAR 062719
- UniProt VAR 062721
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.35
- CADD 0.98
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- UniProt: Benign (in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, alle)
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available