R43W (p.Arg43Trp) variant of ATP1A3 (P13637)
R43W (p.Arg43Trp) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs781898188
- ClinGen CA9467950
- ClinVar RCV003834022
- ExAC rs781898188
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 26.30
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)