K4T (p.Lys4Thr) variant of MEN1 (Menin)
K4T (p.Lys4Thr) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- rs1592661250
- ClinGen CA381188323
- ClinVar RCV000793073
- ClinVar RCV003307425
- Uncertain significance
- Multiple endocrine neoplasia, type 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.08
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 1; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)