S10L (p.Ser10Leu) variant of ATP1A3 (P13637)
S10L (p.Ser10Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alternating hemiplegia of childhood 2. The record also includes published literature and structural context.
S10L (p.Ser10Leu) variant details
- p.Ser10Leu
- rs2514086772
- ClinGen CA406057943
- ClinVar RCV003990080
- Uncertain significance
- Alternating hemiplegia of childhood 2
- Missense
- ClinVar: Uncertain significance (Alternating hemiplegia of childhood 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)