T103A (p.Thr103Ala) variant of HLA-DQB1 (P01920)
T103A (p.Thr103Ala) 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, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T103A (p.Thr103Ala) variant details
- p.Thr103Ala
- rs1130390
- UniProt VAR 062724
- 1000Genomes rs1130390
- ESP rs1130390
- Benign
- in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, allele DQB1*05:05, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.25
- CADD 3.83
- PolyPhen-2 0.00
- SIFT 0.50
- EBI: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- UniProt: Benign (in allele DQB1*05:01, allele DQB1*05:02, allele DQB1*05:03, alle)
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 0.72)
- Structural context available