F144V (p.Phe144Val) variant of MEN1 (Menin)
F144V (p.Phe144Val) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
F144V (p.Phe144Val) variant details
- p.Phe144Val
- rs1114167543
- ClinGen CA381186717
- ClinVar RCV000491902
- ClinVar RCV001000177
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.73
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. (PMID 15714081)
- Cited in: Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. (PMID 10090472)