W1594R (p.Trp1594Arg) variant of SCN2A (Nav1.2)
W1594R (p.Trp1594Arg) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W1594R (p.Trp1594Arg) variant details
- p.Trp1594Arg
- rs1057518111
- ClinGen CA16042354
- ClinVar RCV000414096
- Ensembl rs1057518111
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available