I777N (p.Ile777Asn) variant of ATP1A3 (P13637)
I777N (p.Ile777Asn) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of ATP1A3-associated neurological disorder; Alternating hemiplegia of childhood. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
I777N (p.Ile777Asn) variant details
- p.Ile777Asn
- rs1599706522
- ClinGen CA406039560
- ClinVar RCV000825579
- ClinVar RCV003985095
- Pathogenic/Likely pathogenic
- ATP1A3-associated neurological disorder; Alternating hemiplegia of childhood
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.92
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic/Likely pathogenic (ATP1A3-associated neurological disorder; Alternating hemiplegia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available