A16G (p.Ala16Gly) variant of PINK1 (Q9BXM7)
A16G (p.Ala16Gly) in PINK1 (Q9BXM7) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- TOPMed rs897203855
- gnomAD rs897203855
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.30
- CADD 24.20
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available