Q5G (p.Gln5Gly) variant of PINK1 (Q9BXM7)
Q5G (p.Gln5Gly) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q5G (p.Gln5Gly) variant details
- p.Gln5Gly
- gnomAD 1-20633559-GAC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 29.20
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available