Q116E (p.Gln116Glu) variant of HLA-DQB1 (P01920)
Q116E (p.Gln116Glu) 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*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
Q116E (p.Gln116Glu) variant details
- p.Gln116Glu
- rs1140316
- UniProt VAR 062731
- 1000Genomes rs1140316
- ExAC rs1140316
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- Structural context available