R33W (p.Arg33Trp) variant of PINK1 (Q9BXM7)
R33W (p.Arg33Trp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- gnomAD 1-20633645-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.29
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available