G14D (p.Gly14Asp) variant of PINK1 (Q9BXM7)
G14D (p.Gly14Asp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 1-20633589-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available