L17L (p.Leu17Leu) variant of PINK1 (Q9BXM7)
L17L (p.Leu17Leu) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L17L (p.Leu17Leu) variant details
- p.Leu17Leu
- gnomAD 1-20633599-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 13.40
- Most common in the South Asian population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available