L18L (p.Leu18Leu) variant of PINK1 (Q9BXM7)
L18L (p.Leu18Leu) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- gnomAD 1-20633600-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 14.80
- Population evidence available
- Structural context available
- Literature evidence available