R76G (p.Arg76Gly) variant of ATP13A2 (Q9NQ11)
R76G (p.Arg76Gly) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R76G (p.Arg76Gly) variant details
- p.Arg76Gly
- ExAC rs751715295
- TOPMed rs751715295
- gnomAD rs751715295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- CADD 27.30
- PolyPhen-2 0.64
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available