P34T (p.Pro34Thr) variant of PINK1 (Q9BXM7)
P34T (p.Pro34Thr) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- gnomAD 1-20633648-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.08
- CADD 17.70
- PolyPhen-2 0.06
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available