F144C (p.Phe144Cys) variant of MEN1 (Menin)
F144C (p.Phe144Cys) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
F144C (p.Phe144Cys) variant details
- p.Phe144Cys
- rs2136178004
- ClinGen CA381186712
- ClinVar RCV003171364
- ClinVar RCV005636856
- Likely pathogenic
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- AlphaMissense 0.72
- MetaLR 0.93
- MetaSVM 0.90
- PolyPhen-2 0.99
- SIFT 0.96
- EVE 0.15
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Likely pathogenic (in MEN1)
- UniProt: Likely pathogenic (in MEN1)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)