R27L (p.Arg27Leu) variant of PINK1 (Q9BXM7)
R27L (p.Arg27Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD 1-20633628-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.03
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available