M1V (p.Met1Val) variant of HMBS (Porphobilinogen deaminase)
M1V (p.Met1Val) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Acute intermittent porphyria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs118204118
- ClinGen CA115020
- ClinVar RCV000001549
- ClinVar RCV001851553
- Conflicting interpretations
- not provided; Acute intermittent porphyria
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Acute intermittent porphyria)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase… (PMID 7962538)