A46P (p.Ala46Pro) variant of HLA-DPB1 (P04440)
A46P (p.Ala46Pro) 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*38:01. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A46P (p.Ala46Pro) variant details
- p.Ala46Pro
- rs41555313
- UniProt VAR 060640
- 1000Genomes rs41555313
- ExAC rs41555313
- Benign
- in allele DPB1*38:01
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign (in allele DPB1*38:01)
- UniProt: Benign (in allele DPB1*38:01)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available