M352I (p.Met352Ile) variant of WWOX (Q9NZC7)
M352I (p.Met352Ile) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of esophagus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
M352I (p.Met352Ile) variant details
- p.Met352Ile
- rs2151386374
- ClinGen CA396843543
- ClinVar RCV002246819
- Ensembl rs2151386374
- Pathogenic
- Malignant tumor of esophagus
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.61
- MetaLR 0.25
- MetaSVM -0.77
- PolyPhen-2 0.14
- SIFT 0.15
- EVE 0.15
- ClinVar: Pathogenic (Malignant tumor of esophagus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available