G39R (p.Gly39Arg) variant of PINK1 (Q9BXM7)
G39R (p.Gly39Arg) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- gnomAD 1-20633662-G-GCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available