A28A (p.Ala28Ala) variant of PINK1 (Q9BXM7)
A28A (p.Ala28Ala) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs1241706670
- gnomAD 1-20633632-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 9.79
- Most common in the REMAINING population (allele frequency 2.1e-05)
- Structural context available
- Literature evidence available