S20S (p.Ser20Ser) variant of PURA (Q00577)
S20S (p.Ser20Ser) 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.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- gnomAD 5-140114241-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available