A56A (p.Ala56Ala) variant of PRRT2 (Q7Z6L0)
A56A (p.Ala56Ala) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A56A (p.Ala56Ala) variant details
- p.Ala56Ala
- gnomAD 16-29813222-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 2.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available