T23S (p.Thr23Ser) variant of ATP13A2 (Q9NQ11)
T23S (p.Thr23Ser) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- TOPMed rs934435975
- gnomAD rs934435975
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.12
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available