L19del (p.Leu19del) variant of PINK1 (Q9BXM7)
L19del (p.Leu19del) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L19del (p.Leu19del) variant details
- gnomAD 1-20633595-CGCT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 21.90
- Population evidence available
- Structural context available
- Literature evidence available