V215M (p.Val215Met) variant of HMBS (Porphobilinogen deaminase)
V215M (p.Val215Met) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Acute intermittent porphyria; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
V215M (p.Val215Met) variant details
- p.Val215Met
- rs2134876594
- ClinGen CA382896822
- ClinVar RCV003557676
- ClinVar RCV004818379
- Pathogenic/Likely pathogenic
- Acute intermittent porphyria; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Acute intermittent porphyria; not provided)
- EBI: Pathogenic (in AIP)
- UniProt: Pathogenic (in AIP)
- Structural context available
- Cited in: Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which… (PMID 18406650)
- Cited in: Acute Intermittent Porphyria. (PMID 20301372)