T9P (p.Thr9Pro) variant of MEN1 (Menin)
T9P (p.Thr9Pro) in MEN1 (Menin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
T9P (p.Thr9Pro) variant details
- p.Thr9Pro
- rs1489754478
- ClinGen CA381188269
- ClinVar RCV003288364
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- AlphaMissense 0.05
- MetaLR 0.82
- MetaSVM 0.51
- PolyPhen-2 0.05
- SIFT 0.75
- EVE 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)