V3L (p.Val3Leu) variant of PINK1 (Q9BXM7)
V3L (p.Val3Leu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 1-20633555-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available