R15L (p.Arg15Leu) variant of PINK1 (Q9BXM7)
R15L (p.Arg15Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD 1-20633592-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.48
- CADD 25.40
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available