R25P (p.Arg25Pro) variant of NRXN2 (Neurexin-2)
R25P (p.Arg25Pro) in NRXN2 (Neurexin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- 1000Genomes rs1295935415
- TOPMed rs1295935415
- gnomAD rs1295935415
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.94
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available