L85Q (p.Leu85Gln) variant of HLA-DQB1 (P01920)
L85Q (p.Leu85Gln) 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*03:23, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
L85Q (p.Leu85Gln) variant details
- p.Leu85Gln
- rs1140313
- cosmic curated COSV66569
- UniProt VAR 062708
- 1000Genomes rs1140313
- Benign
- in allele DQB1*03:23, allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- AlphaMissense 0.08
- MetaLR 0.00
- MetaSVM -0.97
- PolyPhen-2 0.17
- SIFT 0.01
- MutPred 0.56
- EBI: Benign (in allele DQB1*03:23, allele DQB1*05:01, allele DQB1*05:02, alle)
- UniProt: Benign (in allele DQB1*03:23, allele DQB1*05:01, allele DQB1*05:02, alle)
- Structural context available
- Literature evidence available