L107V (p.Leu107Val) variant of HLA-DQB1 (P01920)
L107V (p.Leu107Val) 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 0.17 / 1. The record also includes population frequency data and structural context.
L107V (p.Leu107Val) variant details
- p.Leu107Val
- rs9274384
- cosmic curated COSV66571
- UniProt VAR 062729
- 1000Genomes rs9274384
- 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 0.17
- REVEL 0.24
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- 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)
- Most common in the HGDP:NAXI population (allele frequency 0.8)
- Structural context available