R167L (p.Arg167Leu) variant of HMBS (Porphobilinogen deaminase)
R167L (p.Arg167Leu) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute intermittent 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.
R167L (p.Arg167Leu) variant details
- p.Arg167Leu
- rs118204095
- ClinGen CA251815
- ClinVar RCV000001522
- ESP rs118204095
- Pathogenic
- Acute intermittent 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 (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP and ENCEP)
- UniProt: Pathogenic (in AIP and ENCEP)
- Structural context available
- Cited in: Studies on the mechanism of hydroxymethylbilane synthase concerning the role of arginine residues in substrate binding. (PMID 2025226)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)