L18M (p.Leu18Met) variant of PINK1 (Q9BXM7)
L18M (p.Leu18Met) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 1-20633600-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available