K184R (p.Lys184Arg) variant of ATP1A3 (P13637)
K184R (p.Lys184Arg) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K184R (p.Lys184Arg) variant details
- p.Lys184Arg
- rs372927309
- ClinGen CA9467845
- ClinVar RCV003515082
- ESP rs372927309
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.90
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)