K1502N (p.Lys1502Asn) variant of SCN2A (Nav1.2)
K1502N (p.Lys1502Asn) 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 0.91 / 1. The record also includes structural context.
K1502N (p.Lys1502Asn) variant details
- p.Lys1502Asn
- rs1701581615
- ClinGen CA349034784
- ClinVar RCV001265500
- Ensembl rs1701581615
- Likely pathogenic
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.05
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Likely pathogenic (Complex neurodevelopmental disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available