Q5E (p.Gln5Glu) variant of PINK1 (Q9BXM7)
Q5E (p.Gln5Glu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- gnomAD 1-20633561-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.20
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available