R32P (p.Arg32Pro) variant of HMBS (Porphobilinogen deaminase)
R32P (p.Arg32Pro) 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 0.94 / 1. The record also includes published literature and structural context.
R32P (p.Arg32Pro) variant details
- p.Arg32Pro
- UniProt VAR 074151
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six… (PMID 19138865)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)