L13P (p.Leu13Pro) variant of PINK1 (Q9BXM7)
L13P (p.Leu13Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 1-20633586-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.42
- CADD 26.00
- PolyPhen-2 0.91
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available