W45R (p.Trp45Arg) variant of ATP13A2 (Q9NQ11)
W45R (p.Trp45Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
W45R (p.Trp45Arg) variant details
- p.Trp45Arg
- ExAC rs757858388
- gnomAD rs757858388
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.28
- CADD 26.70
- PolyPhen-2 0.71
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available