S38P (p.Ser38Pro) variant of MEN1 (Menin)
S38P (p.Ser38Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- rs1341908127
- ClinGen CA381187931
- ClinVar RCV002320661
- gnomAD rs1341908127
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)