S4S (p.Ser4Ser) variant of PRRT2 (Q7Z6L0)
S4S (p.Ser4Ser) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs757148846
- gnomAD 16-29813066-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 8.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available