P277H (p.Pro277His) variant of MEN1 (Menin)
P277H (p.Pro277His) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P277H (p.Pro277His) variant details
- p.Pro277His
- rs1060499973
- ClinGen CA16613405
- ClinVar RCV000471154
- ClinVar RCV000568673
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. (PMID 12016470)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)