K81Q (p.Lys81Gln) variant of MRE11 (P49959)
K81Q (p.Lys81Gln) 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 0.41 / 1. The record also includes published literature and structural context.
K81Q (p.Lys81Gln) variant details
- p.Lys81Gln
- rs1947131851
- ClinGen CA382379566
- cosmic curated COSV60581
- ClinVar RCV002461450
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.50
- PolyPhen-2 0.13
- SIFT 0.24
- MutPred 0.55
- 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)