S779N (p.Ser779Asn) variant of ATP1A2 (P50993)
S779N (p.Ser779Asn) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alternating hemiplegia of childhood 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
S779N (p.Ser779Asn) variant details
- p.Ser779Asn
- rs2101995480
- ClinGen CA343250247
- ClinVar RCV001777180
- Ensembl rs2101995480
- Likely pathogenic
- Alternating hemiplegia of childhood 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.80
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (Alternating hemiplegia of childhood 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. (PMID 30423015)