G33E (p.Gly33Glu) variant of MRE11 (P49959)
G33E (p.Gly33Glu) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G33E (p.Gly33Glu) variant details
- p.Gly33Glu
- rs761681478
- ClinGen CA6235463
- ClinVar RCV000215660
- ClinVar RCV002229301
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.80
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)