D9E (p.Asp9Glu) variant of ATP1A3 (P13637)
D9E (p.Asp9Glu) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- ExAC rs781919964
- gnomAD rs781919964
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available