S28S (p.Ser28Ser) variant of PURA (Q00577)
S28S (p.Ser28Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S28S (p.Ser28Ser) variant details
- p.Ser28Ser
- rs551701773
- gnomAD 5-140114265-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 13.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available