L92P (p.Leu92Pro) variant of HMBS (Porphobilinogen deaminase)
L92P (p.Leu92Pro) 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 0.99 / 1. The record also includes published literature and structural context.
L92P (p.Leu92Pro) variant details
- p.Leu92Pro
- rs1946187914
- ClinGen CA382890512
- ClinVar RCV001332261
- UniProt VAR 025565
- Likely pathogenic
- Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- 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: 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)