L13L (p.Leu13Leu) variant of PINK1 (Q9BXM7)
L13L (p.Leu13Leu) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- gnomAD 1-20633587-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 13.00
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available