p.Pro36 Gly39del variant of PINK1 (Q9BXM7)
p.Pro36 Gly39del 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.
p.Pro36 Gly39del variant details
- gnomAD 1-20633648-CCGGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 18.70
- Population evidence available
- Structural context available
- Literature evidence available