Q12Q (p.Gln12Gln) variant of PINK1 (Q9BXM7)
Q12Q (p.Gln12Gln) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q12Q (p.Gln12Gln) variant details
- p.Gln12Gln
- rs2053013365
- gnomAD 1-20633584-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 14.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available