Y29G (p.Tyr29Gly) variant of PINK1 (Q9BXM7)
Y29G (p.Tyr29Gly) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y29G (p.Tyr29Gly) variant details
- p.Tyr29Gly
- gnomAD 1-20633631-CCTACG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 25.40
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available