C50W (p.Cys50Trp) variant of NRXN1 (Neurexin-1)
C50W (p.Cys50Trp) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
C50W (p.Cys50Trp) variant details
- p.Cys50Trp
- rs1057518563
- ClinGen CA16042428
- ClinVar RCV000413417
- TOPMed rs1057518563
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.54
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available