C114* (p.Cys114Ter) variant of RINL (Q6ZS11)
C114* (p.Cys114Ter) in RINL (Q6ZS11) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
C114* (p.Cys114Ter) variant details
- p.Cys114Ter
- rs766586117
- gnomAD 19-38869199-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 6.45
- Population evidence available
- Literature evidence available