L18V (p.Leu18Val) variant of PINK1 (Q9BXM7)
L18V (p.Leu18Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD 1-20633600-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available