A30S (p.Ala30Ser) variant of MRE11 (P49959)
A30S (p.Ala30Ser) 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 0.36 / 1. The record also includes published literature and structural context.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- rs2135141229
- ClinGen CA382380797
- ClinVar RCV003176278
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.15
- MetaLR 0.20
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.52
- 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)