I232V (p.Ile232Val) variant of ATP1A3 (P13637)
I232V (p.Ile232Val) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
I232V (p.Ile232Val) variant details
- p.Ile232Val
- TOPMed rs2075276386
- gnomAD rs2075276386
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available