F281V (p.Phe281Val) variant of ATP1A3 (P13637)
F281V (p.Phe281Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
F281V (p.Phe281Val) variant details
- p.Phe281Val
- rs2145977959
- ClinGen CA406052852
- ClinVar RCV001988300
- Ensembl rs2145977959
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- AlphaMissense 0.98
- MetaLR 0.82
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)