A125V (p.Ala125Val) variant of NRXN2 (Neurexin-2)
A125V (p.Ala125Val) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- TOPMed rs1198083943
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.94
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.24
- Population evidence available
- Structural context available