T74S (p.Thr74Ser) variant of MRE11 (P49959)
T74S (p.Thr74Ser) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
T74S (p.Thr74Ser) variant details
- p.Thr74Ser
- rs201054129
- ClinGen CA382379634
- ClinVar RCV000568546
- 1000Genomes rs201054129
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- AlphaMissense 0.07
- MetaLR 0.34
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)