E51* (p.Glu51Ter) variant of NRXN1 (Neurexin-1)
E51* (p.Glu51Ter) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E51* (p.Glu51Ter) variant details
- p.Glu51Ter
- cosmic curated COSV68013
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 38.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available