S30S (p.Ser30Ser) variant of PURA (Q00577)
S30S (p.Ser30Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs1763036542
- gnomAD 5-140114271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available