I61L (p.Ile61Leu) variant of ATP1A3 (P13637)
I61L (p.Ile61Leu) 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.
I61L (p.Ile61Leu) variant details
- p.Ile61Leu
- gnomAD rs1555866078
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available