A30A (p.Ala30Ala) variant of PRRT2 (Q7Z6L0)
A30A (p.Ala30Ala) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 16-29813144-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available