P25L (p.Pro25Leu) variant of PINK1 (Q9BXM7)
P25L (p.Pro25Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- TOPMed rs2053015060
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.15
- Population evidence available
- Structural context available