G32R (p.Gly32Arg) variant of PINK1 (Q9BXM7)
G32R (p.Gly32Arg) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- TOPMed rs1427965886
- gnomAD rs1427965886
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.59
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.84
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available