L40I (p.Leu40Ile) variant of MRE11 (P49959)
L40I (p.Leu40Ile) 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 0.34 / 1. The record also includes published literature and structural context.
L40I (p.Leu40Ile) variant details
- p.Leu40Ile
- rs1947265336
- ClinGen CA382380700
- ClinVar RCV003164973
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.81
- PolyPhen-2 0.02
- SIFT 1.00
- MutPred 0.70
- 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)