N50S (p.Asn50Ser) variant of MRE11 (P49959)
N50S (p.Asn50Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- rs746023147
- ClinGen CA382380574
- ClinVar RCV000563215
- ExAC rs746023147
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.46
- PolyPhen-2 0.01
- SIFT 0.16
- MutPred 0.45
- 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)