V130L (p.Val130Leu) variant of ATP1A3 (P13637)
V130L (p.Val130Leu) 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 0.66 / 1. The record also includes published literature and structural context.
V130L (p.Val130Leu) variant details
- p.Val130Leu
- rs1555865397
- ClinGen CA406055535
- ClinVar RCV001220470
- gnomAD rs1555865397
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.98
- MetaLR 0.71
- MetaSVM 0.53
- PolyPhen-2 0.03
- SIFT 0.00
- EVE 0.58
- 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)