C49C (p.Cys49Cys) variant of SPTBN4 (Q9H254)
C49C (p.Cys49Cys) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
C49C (p.Cys49Cys) variant details
- p.Cys49Cys
- rs961672018
- gnomAD 19-40472768-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 10.10
- Population evidence available
- Literature evidence available