V52F (p.Val52Phe) variant of ATP13A2 (Q9NQ11)
V52F (p.Val52Phe) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V52F (p.Val52Phe) variant details
- p.Val52Phe
- ExAC rs766408337
- TOPMed rs766408337
- gnomAD rs766408337
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.20
- CADD 8.58
- PolyPhen-2 0.07
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available