R32G (p.Arg32Gly) variant of MRE11 (P49959)
R32G (p.Arg32Gly) 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 0.76 / 1. The record also includes published literature and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- rs587782266
- ClinGen CA167536
- ClinVar RCV000131000
- Ensembl rs587782266
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)