A163S (p.Ala163Ser) variant of NRXN2 (Neurexin-2)
A163S (p.Ala163Ser) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A163S (p.Ala163Ser) variant details
- p.Ala163Ser
- 1000Genomes rs781477164
- ExAC rs781477164
- TOPMed rs781477164
- gnomAD rs781477164
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.36
- MetaLR 0.42
- MetaSVM -0.30
- CADD 23.00
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available