G8D (p.Gly8Asp) variant of PINK1 (Q9BXM7)
G8D (p.Gly8Asp) 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.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD 1-20633571-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available