R230W (p.Arg230Trp) variant of ATP1A3 (P13637)
R230W (p.Arg230Trp) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R230W (p.Arg230Trp) variant details
- p.Arg230Trp
- rs782251693
- ClinGen CA9467811
- ClinVar RCV003115463
- ExAC rs782251693
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)