S56I (p.Ser56Ile) variant of NRXN2 (Neurexin-2)
S56I (p.Ser56Ile) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S56I (p.Ser56Ile) variant details
- p.Ser56Ile
- ExAC rs755477420
- TOPMed rs755477420
- gnomAD rs755477420
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.24
- MetaLR 0.32
- MetaSVM -0.68
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available