S54R (p.Ser54Arg) variant of NRXN2 (Neurexin-2)
S54R (p.Ser54Arg) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- 1000Genomes rs1315160787
- TOPMed rs1315160787
- gnomAD rs1315160787
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.77
- MetaLR 0.56
- MetaSVM 0.10
- CADD 25.70
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available