C39* (p.Cys39Ter) variant of POLR1D (P0DPB6)
C39* (p.Cys39Ter) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
C39* (p.Cys39Ter) variant details
- p.Cys39Ter
- gnomAD 13-27650042-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0846
- CADD 1.17
- Population evidence available
- Structural context available
- Literature evidence available