D129G (p.Asp129Gly) variant of NRXN2 (Neurexin-2)
D129G (p.Asp129Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D129G (p.Asp129Gly) variant details
- p.Asp129Gly
- Ensembl rs2057127456
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.83
- MetaLR 0.79
- MetaSVM 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available