S33T (p.Ser33Thr) variant of ATP13A2 (Q9NQ11)
S33T (p.Ser33Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S33T (p.Ser33Thr) variant details
- p.Ser33Thr
- TOPMed rs1205052411
- gnomAD rs1205052411
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.25
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available