R173W (p.Arg173Trp) variant of HMBS (Porphobilinogen deaminase)
R173W (p.Arg173Trp) 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 Acute intermittent porphyria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R173W (p.Arg173Trp) variant details
- p.Arg173Trp
- rs575222284
- ClinGen CA229595374
- ClinVar RCV000804261
- ClinVar RCV001198558
- Pathogenic/Likely pathogenic
- Acute intermittent porphyria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Acute intermittent porphyria; not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)