P72S (p.Pro72Ser) variant of ATP1A3 (P13637)
P72S (p.Pro72Ser) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P72S (p.Pro72Ser) variant details
- p.Pro72Ser
- ExAC rs782292182
- TOPMed rs782292182
- gnomAD rs782292182
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available