P88L (p.Pro88Leu) variant of HLA-DQB1 (P01920)
P88L (p.Pro88Leu) 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*03:25, allele DQB1*04:01, allele DQB1*04:02 and allele DQB1*04:03. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- rs1130381
- cosmic curated COSV66574
- UniProt VAR 062712
- 1000Genomes rs1130381
- Benign
- in allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02 and allele DQB1*04:03
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.14
- CADD 12.50
- PolyPhen-2 0.02
- SIFT 0.05
- EBI: Benign (in allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02 and a)
- UniProt: Benign (in allele DQB1*03:25, allele DQB1*04:01, allele DQB1*04:02 and a)
- Most common in the HGDP:PIMA population (allele frequency 0.22)
- Structural context available
- Literature evidence available