R167Q (p.Arg167Gln) variant of HMBS (Porphobilinogen deaminase)
R167Q (p.Arg167Gln) 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; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R167Q (p.Arg167Gln) variant details
- p.Arg167Gln
- rs118204095
- ClinGen CA251795
- ClinVar RCV000001511
- ClinVar RCV000520560
- Pathogenic/Likely pathogenic
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 1.00
- MetaSVM 0.90
- CADD 34.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP, ENCEP and LENCEP)
- UniProt: Pathogenic (in AIP, ENCEP and LENCEP)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and… (PMID 12773194)
- Cited in: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria… (PMID 1427766)