R46G (p.Arg46Gly) variant of ATP13A2 (Q9NQ11)
R46G (p.Arg46Gly) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- TOPMed rs2077523047
- gnomAD rs2077523047
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.20
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available