A57A (p.Ala57Ala) variant of PRRT2 (Q7Z6L0)
A57A (p.Ala57Ala) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A57A (p.Ala57Ala) variant details
- p.Ala57Ala
- rs771487218
- gnomAD 16-29813225-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 3.83
- Most common in the Latino/Admixed American population (allele frequency 0.00085)
- Structural context available
- Literature evidence available