S54N (p.Ser54Asn) variant of NRXN2 (Neurexin-2)
S54N (p.Ser54Asn) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S54N (p.Ser54Asn) variant details
- p.Ser54Asn
- 1000Genomes rs1592311400
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.33
- MetaLR 0.39
- MetaSVM -0.30
- CADD 22.50
- PolyPhen-2 0.17
- SIFT 0.05
- Population evidence available
- Structural context available