I92L (p.Ile92Leu) variant of ATP1A3 (P13637)
I92L (p.Ile92Leu) in ATP1A3 (P13637) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
I92L (p.Ile92Leu) variant details
- p.Ile92Leu
- TOPMed rs933392084
- gnomAD rs933392084
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.87
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available