V129M (p.Val129Met) variant of ATP1A3 (P13637)
V129M (p.Val129Met) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Juvenile onset psychosis; Alternating hemiplegia of childhood 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
V129M (p.Val129Met) variant details
- p.Val129Met
- rs1555865401
- ClinGen CA10602480
- ClinVar RCV000225081
- ClinVar RCV002274003
- Pathogenic/Likely pathogenic
- not provided; Juvenile onset psychosis; Alternating hemiplegia of childhood 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.94
- MetaLR 0.84
- MetaSVM 0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic/Likely pathogenic (not provided; Juvenile onset psychosis; Alternating hemiplegia o)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)