R15* (p.Arg15Ter) variant of PINK1 (Q9BXM7)
R15* (p.Arg15Ter) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- gnomAD 1-20633591-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.835
- CADD 38.00
- Population evidence available
- Structural context available
- Literature evidence available