P28L (p.Pro28Leu) variant of HLA-DQB1 (P01920)
P28L (p.Pro28Leu) 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*06:02 and allele DQB1*06:12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
P28L (p.Pro28Leu) variant details
- p.Pro28Leu
- rs1049062
- cosmic curated COSV66570
- UniProt VAR 062685
- 1000Genomes rs1049062
- Benign
- in allele DQB1*06:02 and allele DQB1*06:12
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*06:02 and allele DQB1*06:12)
- UniProt: Benign (in allele DQB1*06:02 and allele DQB1*06:12)
- Structural context available
- Literature evidence available