L31L (p.Leu31Leu) variant of PINK1 (Q9BXM7)
L31L (p.Leu31Leu) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L31L (p.Leu31Leu) variant details
- p.Leu31Leu
- gnomAD 1-20633639-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.513
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available