A58G (p.Ala58Gly) variant of ATP13A2 (Q9NQ11)
A58G (p.Ala58Gly) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A58G (p.Ala58Gly) variant details
- p.Ala58Gly
- TOPMed rs2077521263
- gnomAD rs2077521263
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.11
- CADD 22.60
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available