G35V (p.Gly35Val) variant of PINK1 (Q9BXM7)
G35V (p.Gly35Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- gnomAD 1-20633652-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.89
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available