R8L (p.Arg8Leu) variant of NRXN1 (Neurexin-1)
R8L (p.Arg8Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- rs796052765
- ClinGen CA316081
- ClinVar RCV000188245
- TOPMed rs796052765
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.21
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available