G30C (p.Gly30Cys) variant of PINK1 (Q9BXM7)
G30C (p.Gly30Cys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G30C (p.Gly30Cys) variant details
- p.Gly30Cys
- gnomAD 1-20633636-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.58
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available