Q5R (p.Gln5Arg) variant of PINK1 (Q9BXM7)
Q5R (p.Gln5Arg) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q5R (p.Gln5Arg) variant details
- p.Gln5Arg
- gnomAD 1-20633562-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- CADD 22.80
- PolyPhen-2 0.35
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available