S17S (p.Ser17Ser) variant of PURA (Q00577)
S17S (p.Ser17Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs1345518698
- gnomAD 5-140114232-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 13.40
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- Literature evidence available