Q5H (p.Gln5His) variant of PINK1 (Q9BXM7)
Q5H (p.Gln5His) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 1-20633563-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.16
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available