C83R (p.Cys83Arg) variant of MRE11 (P49959)
C83R (p.Cys83Arg) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C83R (p.Cys83Arg) variant details
- p.Cys83Arg
- rs587782486
- ClinGen CA382379552
- ClinVar RCV000811462
- ClinVar RCV003166304
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.91
- AlphaMissense 0.44
- MetaLR 0.76
- MetaSVM 0.71
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)