A1773T (p.Ala1773Thr) variant of SCN2A (Nav1.2)
A1773T (p.Ala1773Thr) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
A1773T (p.Ala1773Thr) variant details
- p.Ala1773Thr
- rs796053162
- ClinGen CA318033
- ClinVar RCV000189176
- ClinVar RCV000524506
- Pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Complex neurodevelopmental disorder)
- EBI: Pathogenic
- UniProt: 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)