G8C (p.Gly8Cys) variant of PINK1 (Q9BXM7)
G8C (p.Gly8Cys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- gnomAD 1-20633570-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.33
- CADD 27.00
- PolyPhen-2 0.77
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available