A15V (p.Ala15Val) variant of HLA-DQB1 (P01920)
A15V (p.Ala15Val) 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*03:02, allele DQB1*03:03, allele DQB1*04:01, allele DQB1*05:01, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs3189152
- UniProt VAR 062680
- 1000Genomes rs3189152
- ESP rs3189152
- Benign
- in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, allele DQB1*05:01, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, alle)
- UniProt: Benign (in allele DQB1*03:02, allele DQB1*03:03, allele DQB1*04:01, alle)
- Structural context available
- Cited in: Complete sequence of the HLA DQ alpha and DQ beta cDNA from a DR5/DQw3 cell line. (PMID 3584986)