R64W (p.Arg64Trp) variant of ATP1A3 (P13637)
R64W (p.Arg64Trp) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R64W (p.Arg64Trp) variant details
- p.Arg64Trp
- rs1203339638
- ClinGen CA406056817
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57487
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 25.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)