G26D (p.Gly26Asp) variant of PINK1 (Q9BXM7)
G26D (p.Gly26Asp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- gnomAD 1-20633625-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available