T19A (p.Thr19Ala) variant of MRE11 (P49959)
T19A (p.Thr19Ala) 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 0.57 / 1. The record also includes published literature and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- rs876660949
- ClinGen CA10579425
- cosmic curated COSV60577
- ClinVar RCV000213862
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.64
- MetaLR 0.53
- MetaSVM 0.01
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.73
- 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)