G266R (p.Gly266Arg) variant of SCN2A (Nav1.2)
G266R (p.Gly266Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases; Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G266R (p.Gly266Arg) variant details
- p.Gly266Arg
- cosmic curated COSV99331
- Likely pathogenic
- Inborn genetic diseases; Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Inborn genetic diseases; Complex neurodevelopmental disorder)
- UniProt: Likely pathogenic
- Structural context available