M1I (p.Met1Ile) variant of MRE11 (P49959)
M1I (p.Met1Ile) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555018818
- ClinGen CA382381620
- ClinVar RCV000563007
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- MetaLR 0.32
- MetaSVM -0.51
- PolyPhen-2 0.04
- SIFT 0.04
- MutPred 1.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)