C80Y (p.Cys80Tyr) variant of ATP13A2 (Q9NQ11)
C80Y (p.Cys80Tyr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- Ensembl rs1005612211
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.52
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available