P48P (p.Pro48Pro) variant of PRRT2 (Q7Z6L0)
P48P (p.Pro48Pro) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P48P (p.Pro48Pro) variant details
- p.Pro48Pro
- rs1192918667
- gnomAD 16-29813198-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 3.25
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available