K24* (p.Lys24Ter) variant of PINK1 (Q9BXM7)
K24* (p.Lys24Ter) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K24* (p.Lys24Ter) variant details
- p.Lys24Ter
- gnomAD rs1405510308
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 35.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.8e-05)
- Structural context available