L117V (p.Leu117Val) variant of HLA-DQB1 (P01920)
L117V (p.Leu117Val) 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 0.31 / 1. The record also includes structural context.
L117V (p.Leu117Val) variant details
- p.Leu117Val
- rs1140317
- cosmic curated COSV66569
- UniProt VAR 062732
- 1000Genomes rs1140317
- 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 0.314
- AlphaMissense 0.16
- MetaLR 0.00
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.97
- MutPred 0.21
- 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