H256N (p.His256Asn) variant of HMBS (Porphobilinogen deaminase)
H256N (p.His256Asn) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
H256N (p.His256Asn) variant details
- p.His256Asn
- rs118204115
- ClinGen CA251836
- ClinVar RCV000001539
- UniProt VAR 003669
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.88
- MetaSVM 1.09
- PolyPhen-2 0.55
- SIFT 0.47
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria… (PMID 1427766)
- Cited in: Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute… (PMID 8262523)