G35C (p.Gly35Cys) variant of PINK1 (Q9BXM7)
G35C (p.Gly35Cys) 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.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- gnomAD 1-20633651-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.43
- CADD 23.40
- PolyPhen-2 0.94
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available