p.Leu19dup variant of PINK1 (Q9BXM7)
p.Leu19dup in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu19dup variant details
- gnomAD 1-20633595-C-CGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available