A70T (p.Ala70Thr) variant of HLA-DQB1 (P01920)
A70T (p.Ala70Thr) 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*03:20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A70T (p.Ala70Thr) variant details
- p.Ala70Thr
- rs45519640
- UniProt VAR 062701
- ExAC rs45519640
- gnomAD rs45519640
- Benign
- in allele DQB1*03:20
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Benign (in allele DQB1*03:20)
- UniProt: Benign (in allele DQB1*03:20)
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available