E250K (p.Glu250Lys) variant of HMBS (Porphobilinogen deaminase)
E250K (p.Glu250Lys) 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 0.99 / 1. The record also includes published literature and structural context.
E250K (p.Glu250Lys) variant details
- p.Glu250Lys
- rs118204112
- ClinGen CA251830
- ClinVar RCV000001536
- UniProt VAR 003666
- Pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.91
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Acute intermittent porphyria)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis. (PMID 8270254)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)