L7L (p.Leu7Leu) variant of PINK1 (Q9BXM7)
L7L (p.Leu7Leu) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs1347237673
- gnomAD 1-20633567-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 15.90
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available
- Literature evidence available