E86V (p.Glu86Val) variant of HMBS (Porphobilinogen deaminase)
E86V (p.Glu86Val) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Encephalopathy, porphyria-related; Acute intermittent porphyria; Leukoencephalop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E86V (p.Glu86Val) variant details
- p.Glu86Val
- rs150763621
- ClinGen CA272879
- ClinVar RCV000148510
- ClinVar RCV001514054
- Conflicting interpretations
- Encephalopathy, porphyria-related; Acute intermittent porphyria; Leukoencephalop
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.90
- ESM-1b 0.27
- AlphaMissense 0.40
- CADD 26.80
- PolyPhen-2 0.95
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Encephalopathy, porphyria-related; Acute intermittent porphyria;)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in… (PMID 12372055)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)