R167W (p.Arg167Trp) variant of HMBS (Porphobilinogen deaminase)
R167W (p.Arg167Trp) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R167W (p.Arg167Trp) variant details
- p.Arg167Trp
- rs118204101
- ClinGen CA251813
- ClinVar RCV000001521
- ClinVar RCV000489906
- Pathogenic
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP and ENCEP)
- UniProt: Pathogenic (in AIP and ENCEP)
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Cited in: Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent… (PMID 10602775)
- Cited in: CRIM-positive mutations of acute intermittent porphyria in Finland. (PMID 1301948)