A84D (p.Ala84Asp) variant of HMBS (Porphobilinogen deaminase)
A84D (p.Ala84Asp) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leukoencephalopathy, porphyria-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
A84D (p.Ala84Asp) variant details
- p.Ala84Asp
- UniProt VAR 089345
- Pathogenic
- Leukoencephalopathy, porphyria-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.95
- ClinVar: Pathogenic (Leukoencephalopathy, porphyria-related)
- EBI: Pathogenic (in LENCEP)
- UniProt: Pathogenic (in LENCEP)
- Structural context available
- Cited in: Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations. (PMID 34089223)
- Cited in: Acute intermittent porphyria-related leukoencephalopathy. (PMID 27558376)