S5S (p.Ser5Ser) variant of PRRT2 (Q7Z6L0)
S5S (p.Ser5Ser) in PRRT2 (Q7Z6L0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs2142421996
- gnomAD 16-29813069-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 7.72
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available