p.Gly35 Ala37del variant of PINK1 (Q9BXM7)
p.Gly35 Ala37del in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly35 Ala37del variant details
- gnomAD 1-20633648-CCGGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 18.60
- Most common in the Middle Eastern population (allele frequency 0.00031)
- Structural context available
- Literature evidence available