L80V (p.Leu80Val) variant of NRXN2 (Neurexin-2)
L80V (p.Leu80Val) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- ExAC rs779319497
- TOPMed rs779319497
- gnomAD rs779319497
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.56
- MetaLR 0.69
- MetaSVM 0.31
- CADD 23.10
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available