G32E (p.Gly32Glu) variant of PINK1 (Q9BXM7)
G32E (p.Gly32Glu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G32E (p.Gly32Glu) variant details
- p.Gly32Glu
- TOPMed rs2053015599
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.21
- Population evidence available
- Structural context available