Y16C (p.Tyr16Cys) variant of ATP13A2 (Q9NQ11)
Y16C (p.Tyr16Cys) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
Y16C (p.Tyr16Cys) variant details
- p.Tyr16Cys
- TOPMed rs1368656267
- gnomAD rs1368656267
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.49
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available