R64G (p.Arg64Gly) variant of NRXN1 (Neurexin-1)
R64G (p.Arg64Gly) in NRXN1 (Neurexin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R64G (p.Arg64Gly) variant details
- p.Arg64Gly
- ExAC rs201566733
- TOPMed rs201566733
- gnomAD rs201566733
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.48
- CADD 21.20
- PolyPhen-2 0.17
- SIFT 0.18
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available