A70V (p.Ala70Val) variant of HLA-DQB1 (P01920)
A70V (p.Ala70Val) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs1063318
- cosmic curated COSV66571
- UniProt VAR 062702
- 1000Genomes rs1063318
- 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 0.0441
- REVEL 0.02
- 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:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Literature evidence available