Q204H (p.Gln204His) variant of HMBS (Porphobilinogen deaminase)
Q204H (p.Gln204His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
Q204H (p.Gln204His) variant details
- p.Gln204His
- rs1592217847
- ClinGen CA382895036
- ClinVar RCV000807846
- ClinVar RCV002249519
- Pathogenic
- Acute intermittent porphyria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- ESM-1b 0.49
- AlphaMissense 0.59
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria; not provided)
- 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: Acute Intermittent Porphyria. (PMID 20301372)