R167P (p.Arg167Pro) variant of HMBS (Porphobilinogen deaminase)
R167P (p.Arg167Pro) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R167P (p.Arg167Pro) variant details
- p.Arg167Pro
- rs118204095
- ClinGen CA382894056
- ClinVar RCV002017727
- ClinVar RCV005042682
- Pathogenic/Likely pathogenic
- not provided; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Encephalopathy, porphyria-related; Leukoencephalop)
- EBI: Pathogenic (in AIP and ENCEP)
- UniProt: Pathogenic (in AIP and ENCEP)
- Structural context available
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)