W1594C (p.Trp1594Cys) variant of SCN2A (Nav1.2)
W1594C (p.Trp1594Cys) 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 published literature and structural context.
W1594C (p.Trp1594Cys) variant details
- p.Trp1594Cys
- rs1057521747
- ClinGen CA16603919
- ClinVar RCV000432281
- ClinVar RCV002318437
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)