L81P (p.Leu81Pro) variant of HMBS (Porphobilinogen deaminase)
L81P (p.Leu81Pro) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Encephalopathy, porphyria-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
L81P (p.Leu81Pro) variant details
- p.Leu81Pro
- rs118204119
- ClinGen CA251843
- ClinVar RCV003764513
- UniProt VAR 025563
- Pathogenic
- Encephalopathy, porphyria-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Encephalopathy, porphyria-related)
- EBI: Pathogenic (in ENCEP)
- UniProt: Pathogenic (in ENCEP)
- Structural context available
- Cited in: Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin… (PMID 14970743)
- Cited in: Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the… (PMID 1577472)