R4R (p.Arg4Arg) variant of PINK1 (Q9BXM7)
R4R (p.Arg4Arg) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R4R (p.Arg4Arg) variant details
- p.Arg4Arg
- gnomAD 1-20633558-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available