G32W (p.Gly32Trp) variant of PINK1 (Q9BXM7)
G32W (p.Gly32Trp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G32W (p.Gly32Trp) variant details
- p.Gly32Trp
- gnomAD 1-20633642-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.48
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available