I92V (p.Ile92Val) variant of ATP1A3 (P13637)
I92V (p.Ile92Val) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Dystonia 12. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- rs933392084
- ClinGen CA308599033
- ClinVar RCV001071677
- ClinVar RCV003396729
- Uncertain significance
- not specified; Dystonia 12
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified; Dystonia 12)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: ATP1A3-Related Disorder. (PMID 20301294)
- Cited in: Monogenic Isolated Dystonia Overview. (PMID 20301334)