P84L (p.Pro84Leu) variant of HLA-DQB1 (P01920)
P84L (p.Pro84Leu) 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 an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P84L (p.Pro84Leu) variant details
- p.Pro84Leu
- rs9274395
- UniProt VAR 062707
- 1000Genomes rs9274395
- ExAC rs9274395
- Benign
- in allele DQB1*02:01, allele DQB1*02:02, allele DQB1*02:03, allele DQB1*02:04 an
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.12
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.01
- 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:MAKRANI population (allele frequency 0.031)
- Structural context available
- Literature evidence available