Q230P (p.Gln230Pro) variant of WWOX (Q9NZC7)
Q230P (p.Gln230Pro) in WWOX (Q9NZC7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Malignant tumor of esophagus; Developmental and epileptic encephalopathy, 28; Au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
Q230P (p.Gln230Pro) variant details
- p.Gln230Pro
- rs199628364
- ClinGen CA8183414
- ClinVar RCV001004706
- ClinVar RCV001389252
- Pathogenic/Likely pathogenic
- Malignant tumor of esophagus; Developmental and epileptic encephalopathy, 28; Au
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Malignant tumor of esophagus; Developmental and epileptic enceph)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)