A6S (p.Ala6Ser) variant of HLA-DQB1 (P01920)
A6S (p.Ala6Ser) 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*05:01 and allele DQB1*05:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs1049056
- UniProt VAR 056570
- 1000Genomes rs1049056
- ESP rs1049056
- Benign
- in allele DQB1*05:01 and allele DQB1*05:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.03
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Benign (in allele DQB1*05:01 and allele DQB1*05:02)
- UniProt: Benign (in allele DQB1*05:01 and allele DQB1*05:02)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.68)
- Structural context available
- Literature evidence available