F12L (p.Phe12Leu) variant of NRXN1 (Neurexin-1)
F12L (p.Phe12Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- TOPMed rs1374501973
- gnomAD rs1374501973
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 4.55
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available