Y34* (p.Tyr34Ter) variant of WWOX (Q9NZC7)
Y34* (p.Tyr34Ter) in WWOX (Q9NZC7) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y34* (p.Tyr34Ter) variant details
- p.Tyr34Ter
- rs1295198168
- ClinGen CA396841942
- ClinVar RCV001814482
- TOPMed rs1295198168
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available