L245R (p.Leu245Arg) variant of HMBS (Porphobilinogen deaminase)
L245R (p.Leu245Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
L245R (p.Leu245Arg) variant details
- p.Leu245Arg
- rs118204099
- ClinGen CA251804
- ClinVar RCV000001515
- UniProt VAR 003662
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- ESM-1b 0.35
- AlphaMissense 0.50
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)
- Cited in: Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the… (PMID 1714233)