A16E (p.Ala16Glu) variant of PINK1 (Q9BXM7)
A16E (p.Ala16Glu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 1-20633595-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.27
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available