R46K (p.Arg46Lys) variant of ATP13A2 (Q9NQ11)
R46K (p.Arg46Lys) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R46K (p.Arg46Lys) variant details
- p.Arg46Lys
- TOPMed rs1234361943
- gnomAD rs1234361943
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.16
- CADD 20.40
- PolyPhen-2 0.12
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available