T18S (p.Thr18Ser) variant of ATP13A2 (Q9NQ11)
T18S (p.Thr18Ser) in ATP13A2 (Q9NQ11) 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.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- TOPMed rs1206896222
- gnomAD rs1206896222
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.23
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available