S8S (p.Ser8Ser) variant of PURA (Q00577)
S8S (p.Ser8Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S8S (p.Ser8Ser) variant details
- p.Ser8Ser
- rs1763034680
- gnomAD 5-140114205-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 16.10
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available
- Literature evidence available