R26C (p.Arg26Cys) variant of HMBS (Porphobilinogen deaminase)
R26C (p.Arg26Cys) 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 not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- rs998842815
- ClinGen CA229592849
- ClinVar RCV000799514
- ClinVar RCV003152734
- Pathogenic/Likely pathogenic
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- 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: New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria. (PMID 10657149)