L19M (p.Leu19Met) variant of PINK1 (Q9BXM7)
L19M (p.Leu19Met) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- gnomAD 1-20633603-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.36
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available