A24V (p.Ala24Val) variant of NRXN2 (Neurexin-2)
A24V (p.Ala24Val) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- TOPMed rs1372066287
- gnomAD rs1372066287
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.88
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available