G2A (p.Gly2Ala) variant of ATP1A3 (P13637)
G2A (p.Gly2Ala) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G2A (p.Gly2Ala) variant details
- p.Gly2Ala
- ExAC rs782342530
- TOPMed rs782342530
- gnomAD rs782342530
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available