P36L (p.Pro36Leu) variant of PINK1 (Q9BXM7)
P36L (p.Pro36Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD 1-20633655-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.33
- CADD 21.70
- PolyPhen-2 0.60
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available