H84Y (p.His84Tyr) variant of ATP13A2 (Q9NQ11)
H84Y (p.His84Tyr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H84Y (p.His84Tyr) variant details
- p.His84Tyr
- TOPMed rs1225584212
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.03
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available