I232F (p.Ile232Phe) variant of ATP1A3 (P13637)
I232F (p.Ile232Phe) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I232F (p.Ile232Phe) variant details
- p.Ile232Phe
- TOPMed rs2075276386
- gnomAD rs2075276386
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 24.90
- Population evidence available
- Structural context available