E106A (p.Glu106Ala) variant of HLA-DQB1 (P01920)
E106A (p.Glu106Ala) 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 0.16 / 1. The record also includes population frequency data and structural context.
E106A (p.Glu106Ala) variant details
- p.Glu106Ala
- rs1130387
- cosmic curated COSV66569
- UniProt VAR 062727
- 1000Genomes rs1130387
- 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 0.161
- REVEL 0.18
- CADD 7.81
- PolyPhen-2 0.15
- SIFT 0.74
- 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