S443P (p.Ser443Pro) variant of MEN1 (Menin)
S443P (p.Ser443Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
S443P (p.Ser443Pro) variant details
- p.Ser443Pro
- rs774800736
- ClinGen CA060389
- cosmic curated COSV53644
- ClinVar RCV003288355
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)