Y29T (p.Tyr29Thr) variant of PINK1 (Q9BXM7)
Y29T (p.Tyr29Thr) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y29T (p.Tyr29Thr) variant details
- p.Tyr29Thr
- rs1245404301
- gnomAD 1-20633632-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 20.00
- Population evidence available
- Structural context available
- Literature evidence available