W40* (p.Trp40Ter) variant of NRXN1 (Neurexin-1)
W40* (p.Trp40Ter) in NRXN1 (Neurexin-1) 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 0.86 / 1. The record also includes population frequency data and structural context.
W40* (p.Trp40Ter) variant details
- p.Trp40Ter
- rs1064795493
- ClinGen CA16617739
- ClinVar RCV000484849
- Ensembl rs1064795493
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 38.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available