R84W (p.Arg84Trp) variant of ATP1A3 (P13637)
R84W (p.Arg84Trp) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy 99; not provided; 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.
R84W (p.Arg84Trp) variant details
- p.Arg84Trp
- rs1555866028
- ClinGen CA406056519
- ClinVar RCV001557391
- ClinVar RCV006467683
- Uncertain significance
- Developmental and epileptic encephalopathy 99; not provided; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.49
- MetaLR 0.45
- MetaSVM -0.13
- CADD 27.70
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy 99; not provided; Dys)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)