S123Y (p.Ser123Tyr) variant of ATP13A2 (Q9NQ11)
S123Y (p.Ser123Tyr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S123Y (p.Ser123Tyr) variant details
- p.Ser123Tyr
- ExAC rs745369883
- gnomAD rs745369883
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- REVEL 0.05
- CADD 9.20
- PolyPhen-2 0.26
- SIFT 0.03
- Population evidence available
- Structural context available