Q5K (p.Gln5Lys) variant of PINK1 (Q9BXM7)
Q5K (p.Gln5Lys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 1-20633561-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available