M268K (p.Met268Lys) variant of FBXW7 (Q969H0)
M268K (p.Met268Lys) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of EBV-positive nodal T- and NK-cell lymphoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
M268K (p.Met268Lys) variant details
- p.Met268Lys
- rs2126584285
- cosmic curated COSV99654
- ClinVar RCV004560273
- Ensembl rs2126584285
- Pathogenic
- EBV-positive nodal T- and NK-cell lymphoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.56
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic (EBV-positive nodal T- and NK-cell lymphoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available