Q7P (p.Gln7Pro) variant of MEN1 (Menin)
Q7P (p.Gln7Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q7P (p.Gln7Pro) variant details
- p.Gln7Pro
- rs1942026974
- ClinGen CA381188291
- ClinVar RCV001269893
- ClinVar RCV002418869
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.79
- CADD 24.90
- PolyPhen-2 0.33
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Pathogenic
- UniProt: 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)