D35N (p.Asp35Asn) variant of MRE11 (P49959)
D35N (p.Asp35Asn) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
D35N (p.Asp35Asn) variant details
- p.Asp35Asn
- rs1591726630
- ClinGen CA382380753
- ClinVar RCV001009769
- ClinVar RCV002236073
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.97
- MetaLR 0.72
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- 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)