R5G (p.Arg5Gly) variant of PARK7 (Parkinson disease protein 7)
R5G (p.Arg5Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- gnomAD rs1640236965
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.60
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available