G39A (p.Gly39Ala) variant of PINK1 (Q9BXM7)
G39A (p.Gly39Ala) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- gnomAD 1-20633661-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available