Y29* (p.Tyr29Ter) variant of PINK1 (Q9BXM7)
Y29* (p.Tyr29Ter) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y29* (p.Tyr29Ter) variant details
- p.Tyr29Ter
- gnomAD 1-20633635-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available