T3I (p.Thr3Ile) variant of MRE11 (P49959)
T3I (p.Thr3Ile) in MRE11 (P49959) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- rs1461466405
- ClinGen CA382381594
- ClinVar RCV002460854
- TOPMed rs1461466405
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.14
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)