S253L (p.Ser253Leu) variant of MEN1 (Menin)
S253L (p.Ser253Leu) 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; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S253L (p.Ser253Leu) variant details
- p.Ser253Leu
- rs386134259
- ClinGen CA009601
- cosmic curated COSV53641
- ClinVar RCV000460727
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.07
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in parathyroid tumor)
- UniProt: Pathogenic (in parathyroid tumor)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- 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)