L53I (p.Leu53Ile) variant of NRXN2 (Neurexin-2)
L53I (p.Leu53Ile) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L53I (p.Leu53Ile) variant details
- p.Leu53Ile
- 1000Genomes rs568060819
- ExAC rs568060819
- TOPMed rs568060819
- gnomAD rs568060819
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.51
- MetaLR 0.52
- MetaSVM -0.10
- CADD 25.70
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available