M18I (p.Met18Ile) variant of HMBS (Porphobilinogen deaminase)
M18I (p.Met18Ile) 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 0.49 / 1. The record also includes published literature and structural context.
M18I (p.Met18Ile) variant details
- p.Met18Ile
- cosmic curated COSV10639
- NCI-TCGA TCGA novel
- UniProt VAR 025558
- Pathogenic
- in AIP
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.21
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. (PMID 12406973)
- Cited in: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British… (PMID 10453740)