A30G (p.Ala30Gly) variant of MRE11 (P49959)
A30G (p.Ala30Gly) 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 0.46 / 1. The record also includes published literature and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- rs2135141215
- ClinGen CA382380793
- ClinVar RCV002460804
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.17
- MetaLR 0.46
- MetaSVM -0.05
- PolyPhen-2 0.75
- SIFT 0.01
- MutPred 0.48
- 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)