E32* (p.Glu32Ter) variant of NRXN1 (Neurexin-1)
E32* (p.Glu32Ter) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- cosmic curated COSV68013
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 37.00
- Population evidence available
- Structural context available