R4L (p.Arg4Leu) variant of PINK1 (Q9BXM7)
R4L (p.Arg4Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 1-20633559-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.45
- CADD 31.00
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available