V240A (p.Val240Ala) variant of ATP1A3 (P13637)
V240A (p.Val240Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V240A (p.Val240Ala) variant details
- p.Val240Ala
- rs2075276205
- ClinGen CA406053315
- ClinVar RCV001219501
- ClinVar RCV001773492
- Uncertain significance
- Dystonia 12; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.92
- MetaLR 0.74
- MetaSVM 0.58
- PolyPhen-2 0.70
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (Dystonia 12; not provided)
- 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)