I162F (p.Ile162Phe) variant of ATP1A3 (P13637)
I162F (p.Ile162Phe) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I162F (p.Ile162Phe) variant details
- p.Ile162Phe
- rs2075282776
- ClinGen CA406054758
- ClinVar RCV003991131
- TOPMed rs2075282776
- Uncertain significance
- Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 26.10
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Uncertain significance (Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)