N65D (p.Asn65Asp) variant of MRE11 (P49959)
N65D (p.Asn65Asp) 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 0.84 / 1. The record also includes published literature and structural context.
N65D (p.Asn65Asp) variant details
- p.Asn65Asp
- rs1947135355
- ClinGen CA382379791
- ClinVar RCV001249418
- ClinVar RCV004944955
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.86
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)