W46* (p.Trp46Ter) variant of NRXN1 (Neurexin-1)
W46* (p.Trp46Ter) in NRXN1 (Neurexin-1) 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 0.87 / 1. The record also includes population frequency data and structural context.
W46* (p.Trp46Ter) variant details
- p.Trp46Ter
- rs1238347322
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10127
- gnomAD rs1238347322
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available