G23D (p.Gly23Asp) variant of PINK1 (Q9BXM7)
G23D (p.Gly23Asp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- gnomAD 1-20633616-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.05
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available