G14C (p.Gly14Cys) variant of PINK1 (Q9BXM7)
G14C (p.Gly14Cys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G14C (p.Gly14Cys) variant details
- p.Gly14Cys
- gnomAD 1-20633588-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- CADD 27.70
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available