E52G (p.Glu52Gly) variant of NRXN2 (Neurexin-2)
E52G (p.Glu52Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E52G (p.Glu52Gly) variant details
- p.Glu52Gly
- Ensembl rs2135676831
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.61
- MetaLR 0.52
- MetaSVM 0.04
- CADD 27.40
- PolyPhen-2 0.47
- SIFT 0.00
- Population evidence available
- Structural context available