R26H (p.Arg26His) variant of HMBS (Porphobilinogen deaminase)
R26H (p.Arg26His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
R26H (p.Arg26His) variant details
- p.Arg26His
- rs118204103
- ClinGen CA251791
- cosmic curated COSV53828
- ClinVar RCV000001508
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.92
- CADD 32.00
- ClinVar: Pathogenic (not provided)
- 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: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)
- Cited in: Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. (PMID 11857754)