R149Q (p.Arg149Gln) variant of HMBS (Porphobilinogen deaminase)
R149Q (p.Arg149Gln) 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 0.98 / 1. The record also includes published literature and structural context.
R149Q (p.Arg149Gln) variant details
- p.Arg149Gln
- rs118204098
- ClinGen CA251802
- ClinVar RCV000001514
- UniProt VAR 003650
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.982
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)
- Cited in: Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and… (PMID 12773194)