R8L (p.Arg8Leu) variant of NRXN2 (Neurexin-2)
R8L (p.Arg8Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- TOPMed rs940303150
- gnomAD rs940303150
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.02
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available