R8Q (p.Arg8Gln) variant of NRXN2 (Neurexin-2)
R8Q (p.Arg8Gln) 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 0.13 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- TOPMed rs940303150
- gnomAD rs940303150
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -1.03
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.7e-05)
- Structural context available