A23S (p.Ala23Ser) variant of HLA-DQB1 (P01920)
A23S (p.Ala23Ser) 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 and allele DQB1*02:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- rs3891176
- UniProt VAR 062681
- 1000Genomes rs3891176
- ExAC rs3891176
- Benign
- in allele DQB1*02:01 and allele DQB1*02:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.0838
- REVEL 0.07
- CADD 6.31
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Benign (in allele DQB1*02:01 and allele DQB1*02:02)
- UniProt: Benign (in allele DQB1*02:01 and allele DQB1*02:02)
- Most common in the HGDP:BALOCHI population (allele frequency 0.4)
- Structural context available
- Literature evidence available