A16A (p.Ala16Ala) variant of PINK1 (Q9BXM7)
A16A (p.Ala16Ala) in PINK1 (Q9BXM7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- rs2053014692
- gnomAD 1-20633596-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 15.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available