R48R (p.Arg48Arg) variant of PARK7 (Parkinson disease protein 7)
R48R (p.Arg48Arg) in PARK7 (Parkinson disease protein 7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 1-7965377-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 11.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available