S120P (p.Ser120Pro) variant of ATP13A2 (Q9NQ11)
S120P (p.Ser120Pro) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S120P (p.Ser120Pro) variant details
- p.Ser120Pro
- TOPMed rs1161855207
- gnomAD rs1161855207
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.03
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.38
- Population evidence available
- Structural context available