A172T (p.Ala172Thr) variant of ATP1A3 (P13637)
A172T (p.Ala172Thr) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A172T (p.Ala172Thr) variant details
- p.Ala172Thr
- ExAC rs782236247
- TOPMed rs782236247
- gnomAD rs782236247
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available