P36Q (p.Pro36Gln) variant of PINK1 (Q9BXM7)
P36Q (p.Pro36Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P36Q (p.Pro36Gln) variant details
- p.Pro36Gln
- gnomAD 1-20633655-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.27
- CADD 20.60
- PolyPhen-2 0.93
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available