R20L (p.Arg20Leu) variant of PINK1 (Q9BXM7)
R20L (p.Arg20Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- Ensembl rs1245195510
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.99
- Population evidence available
- Structural context available