A191S (p.Ala191Ser) variant of ATP1A3 (P13637)
A191S (p.Ala191Ser) 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 0.81 / 1. The record also includes published literature and structural context.
A191S (p.Ala191Ser) variant details
- p.Ala191Ser
- rs1568865274
- ClinGen CA406054349
- ClinVar RCV000703622
- Ensembl rs1568865274
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 0.55
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.63
- 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)