S17* (p.Ser17Ter) variant of NRXN1 (Neurexin-1)
S17* (p.Ser17Ter) in NRXN1 (Neurexin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S17* (p.Ser17Ter) variant details
- p.Ser17Ter
- gnomAD rs868375208
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 37.00
- Population evidence available
- Structural context available