C44G (p.Cys44Gly) variant of HLA-DPB1 (P04440)
C44G (p.Cys44Gly) 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*26:02. 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.
C44G (p.Cys44Gly) variant details
- p.Cys44Gly
- rs1424116907
- UniProt VAR 060639
- TOPMed rs1424116907
- gnomAD rs1424116907
- Benign
- in allele DPB1*26:02
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign (in allele DPB1*26:02)
- UniProt: Benign (in allele DPB1*26:02)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available