R20C (p.Arg20Cys) variant of PINK1 (Q9BXM7)
R20C (p.Arg20Cys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- gnomAD 1-20633606-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.41
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available