G49R (p.Gly49Arg) variant of ATP13A2 (Q9NQ11)
G49R (p.Gly49Arg) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- 1000Genomes rs56379718
- ESP rs56379718
- ExAC rs56379718
- TOPMed rs56379718
- Benign
- Missense
- EBI: Benign (in dbSNP:rs56379718)
- UniProt: Benign (in dbSNP:rs56379718)
- Population evidence available
- Structural context available