Y41* (p.Tyr41Ter) variant of NRXN2 (Neurexin-2)
Y41* (p.Tyr41Ter) in NRXN2 (Neurexin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y41* (p.Tyr41Ter) variant details
- p.Tyr41Ter
- NCI-TCGA TCGA novel
- ExAC rs761811931
- TOPMed rs761811931
- gnomAD rs761811931
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available