R42C (p.Arg42Cys) variant of NRXN1 (Neurexin-1)
R42C (p.Arg42Cys) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R42C (p.Arg42Cys) variant details
- p.Arg42Cys
- cosmic curated COSV68004
- TOPMed rs1365577683
- gnomAD rs1365577683
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.70
- CADD 29.60
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available