P34Q (p.Pro34Gln) variant of PINK1 (Q9BXM7)
P34Q (p.Pro34Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P34Q (p.Pro34Gln) variant details
- p.Pro34Gln
- gnomAD 1-20633649-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.10
- CADD 16.60
- PolyPhen-2 0.17
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available