R33P (p.Arg33Pro) variant of PINK1 (Q9BXM7)
R33P (p.Arg33Pro) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R33P (p.Arg33Pro) variant details
- p.Arg33Pro
- gnomAD 1-20633645-CGG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.343
- CADD 22.90
- Population evidence available
- Structural context available
- Literature evidence available