Y29R (p.Tyr29Arg) variant of PINK1 (Q9BXM7)
Y29R (p.Tyr29Arg) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y29R (p.Tyr29Arg) variant details
- p.Tyr29Arg
- rs1480758482
- gnomAD 1-20633622-CCGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 26.70
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available