F25C (p.Phe25Cys) variant of MRE11 (P49959)
F25C (p.Phe25Cys) 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; Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
F25C (p.Phe25Cys) variant details
- p.Phe25Cys
- rs1947266764
- ClinGen CA382380902
- ClinVar RCV001212962
- ClinVar RCV003163620
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- AlphaMissense 0.11
- MetaLR 0.17
- MetaSVM -0.81
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.80
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-l)
- 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)