R116W (p.Arg116Trp) variant of HMBS (Porphobilinogen deaminase)
R116W (p.Arg116Trp) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R116W (p.Arg116Trp) variant details
- p.Arg116Trp
- rs118204094
- ClinGen CA251793
- cosmic curated COSV99598
- ClinVar RCV000001510
- Pathogenic
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent… (PMID 10602775)
- Cited in: Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent… (PMID 11030413)