R111L (p.Arg111Leu) variant of NRXN2 (Neurexin-2)
R111L (p.Arg111Leu) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R111L (p.Arg111Leu) variant details
- p.Arg111Leu
- gnomAD rs1343530179
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- MetaLR 0.26
- MetaSVM -0.86
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available