A46T (p.Ala46Thr) variant of HLA-DPB1 (P04440)
A46T (p.Ala46Thr) in HLA-DPB1 (P04440) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in allele DPB1*18:02. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs41555313
- 1000Genomes rs41555313
- ExAC rs41555313
- TOPMed rs41555313
- Benign
- in allele DPB1*18:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.19
- CADD 20.50
- PolyPhen-2 0.40
- SIFT 0.01
- EBI: Benign (in allele DPB1*18:02)
- UniProt: Benign (in allele DPB1*18:02)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available