T78P (p.Thr78Pro) variant of HMBS (Porphobilinogen deaminase)
T78P (p.Thr78Pro) 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.
T78P (p.Thr78Pro) variant details
- p.Thr78Pro
- UniProt VAR 025561
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene. (PMID 11399210)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)