D61Y (p.Asp61Tyr) variant of HMBS (Porphobilinogen deaminase)
D61Y (p.Asp61Tyr) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D61Y (p.Asp61Tyr) variant details
- p.Asp61Tyr
- rs2134859037
- ClinGen CA382889248
- ClinVar RCV002225205
- UniProt VAR 025560
- Likely pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria. (PMID 11857754)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)