A142S (p.Ala142Ser) variant of ATP1A3 (P13637)
A142S (p.Ala142Ser) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A142S (p.Ala142Ser) variant details
- p.Ala142Ser
- TOPMed rs878853219
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available