R27W (p.Arg27Trp) variant of PINK1 (Q9BXM7)
R27W (p.Arg27Trp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- TOPMed rs2053015185
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.21
- CADD 20.60
- PolyPhen-2 0.33
- SIFT 0.03
- Population evidence available
- Structural context available