A6A (p.Ala6Ala) variant of PINK1 (Q9BXM7)
A6A (p.Ala6Ala) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs1297865995
- gnomAD 1-20633566-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 14.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available