L119F (p.Leu119Phe) variant of HLA-DQB1 (P01920)
L119F (p.Leu119Phe) 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*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:08, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
L119F (p.Leu119Phe) variant details
- p.Leu119Phe
- rs9274379
- cosmic curated COSV66571
- UniProt VAR 062735
- 1000Genomes rs9274379
- Benign
- in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, allele DQB1*06:08, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.12
- MetaLR 0.00
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.29
- MutPred 0.18
- EBI: Benign (in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, alle)
- UniProt: Benign (in allele DQB1*06:01, allele DQB1*06:02, allele DQB1*06:03, alle)
- Structural context available