D20G (p.Asp20Gly) variant of MRE11 (P49959)
D20G (p.Asp20Gly) 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; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
D20G (p.Asp20Gly) variant details
- p.Asp20Gly
- rs1565242083
- ClinGen CA382380988
- ClinVar RCV002462125
- ClinVar RCV003227855
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.981
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.89
- 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)