L18V (p.Leu18Val) variant of NRXN2 (Neurexin-2)
L18V (p.Leu18Val) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- TOPMed rs1449966375
- gnomAD rs1449966375
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.03
- MetaLR 0.14
- MetaSVM -0.87
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available