P25T (p.Pro25Thr) variant of PINK1 (Q9BXM7)
P25T (p.Pro25Thr) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P25T (p.Pro25Thr) variant details
- p.Pro25Thr
- gnomAD 1-20633621-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.25
- CADD 20.40
- PolyPhen-2 0.99
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available