R116Q (p.Arg116Gln) variant of HMBS (Porphobilinogen deaminase)
R116Q (p.Arg116Gln) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R116Q (p.Arg116Gln) variant details
- p.Arg116Gln
- rs1165046276
- ClinGen CA382892112
- cosmic curated COSV53829
- ClinVar RCV000799967
- Conflicting interpretations
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Cited in: Identification of five novel mutations in the porphobilinogen deaminase gene. (PMID 8081367)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)