R33G (p.Arg33Gly) variant of PINK1 (Q9BXM7)
R33G (p.Arg33Gly) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R33G (p.Arg33Gly) variant details
- p.Arg33Gly
- gnomAD 1-20633640-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available