P119A (p.Pro119Ala) variant of ATP13A2 (Q9NQ11)
P119A (p.Pro119Ala) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P119A (p.Pro119Ala) variant details
- p.Pro119Ala
- Ensembl rs2077490519
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.09
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.92
- Population evidence available
- Structural context available