R33L (p.Arg33Leu) variant of PINK1 (Q9BXM7)
R33L (p.Arg33Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- gnomAD 1-20633646-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.14
- CADD 17.80
- PolyPhen-2 0.10
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available