A2E (p.Ala2Glu) variant of NRXN2 (Neurexin-2)
A2E (p.Ala2Glu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- TOPMed rs1315309671
- gnomAD rs1315309671
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.96
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available