S120T (p.Ser120Thr) variant of ATP13A2 (Q9NQ11)
S120T (p.Ser120Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S120T (p.Ser120Thr) variant details
- p.Ser120Thr
- TOPMed rs1161855207
- gnomAD rs1161855207
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.02
- CADD 7.76
- PolyPhen-2 0.05
- SIFT 0.44
- Population evidence available
- Structural context available