R4* (p.Arg4Ter) variant of PINK1 (Q9BXM7)
R4* (p.Arg4Ter) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R4* (p.Arg4Ter) variant details
- p.Arg4Ter
- gnomAD 1-20633558-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available