E77G (p.Glu77Gly) variant of HLA-DQB1 (P01920)
E77G (p.Glu77Gly) 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 0.22 / 1. The record also includes published literature and structural context.
E77G (p.Glu77Gly) variant details
- p.Glu77Gly
- rs1049083
- cosmic curated COSV66569
- UniProt VAR 062703
- 1000Genomes rs1049083
- 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 0.22
- AlphaMissense 0.38
- MetaLR 0.00
- MetaSVM -0.67
- PolyPhen-2 0.17
- SIFT 0.07
- 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)
- Structural context available
- Cited in: Complete sequence of the HLA DQ alpha and DQ beta cDNA from a DR5/DQw3 cell line. (PMID 3584986)