C39C (p.Cys39Cys) variant of POLR1D (P0DPB6)
C39C (p.Cys39Cys) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
C39C (p.Cys39Cys) variant details
- p.Cys39Cys
- rs901340034
- gnomAD 13-27650042-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.31
- Population evidence available
- Structural context available
- Literature evidence available