R173P (p.Arg173Pro) variant of HMBS (Porphobilinogen deaminase)
R173P (p.Arg173Pro) 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 0.99 / 1. The record also includes published literature and structural context.
R173P (p.Arg173Pro) variant details
- p.Arg173Pro
- rs118204096
- ClinGen CA382894205
- ClinVar RCV003333896
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.92
- 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: Acute Intermittent Porphyria. (PMID 20301372)