L85R (p.Leu85Arg) variant of HMBS (Porphobilinogen deaminase)
L85R (p.Leu85Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AIP. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L85R (p.Leu85Arg) variant details
- p.Leu85Arg
- UniProt VAR 011009
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)
- Cited in: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria… (PMID 10494093)