S6S (p.Ser6Ser) variant of PURA (Q00577)
S6S (p.Ser6Ser) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- gnomAD 5-140114199-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 16.00
- Population evidence available
- Structural context available
- Literature evidence available