P190L (p.Pro190Leu) variant of ATP1A3 (P13637)
P190L (p.Pro190Leu) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P190L (p.Pro190Leu) variant details
- p.Pro190Leu
- rs1599723609
- ClinGen CA406054351
- ClinVar RCV000996936
- ClinVar RCV002550704
- Conflicting interpretations
- not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Conflicting classifications of pathogenicity (not provided; 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)