I15V (p.Ile15Val) variant of MRE11 (P49959)
I15V (p.Ile15Val) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I15V (p.Ile15Val) variant details
- p.Ile15Val
- rs778229721
- ClinGen CA6235467
- ClinVar RCV002460670
- ExAC rs778229721
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.13
- MetaLR 0.56
- MetaSVM -0.07
- PolyPhen-2 0.02
- SIFT 0.04
- MutPred 0.65
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)