M1I (p.Met1Ile) variant of FH (P07954)
M1I (p.Met1Ile) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs564147469
- ClinGen CA345443120
- ClinVar RCV002642166
- ClinVar RCV004616956
- Conflicting interpretations
- not provided
- Missense
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 0.53
- SIFT 0.02
- MutPred 0.65
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)