Q12* (p.Gln12Ter) variant of PINK1 (Q9BXM7)
Q12* (p.Gln12Ter) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- gnomAD 1-20633582-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available