C39L (p.Cys39Leu) variant of POLR1D (P0DPB6)
C39L (p.Cys39Leu) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C39L (p.Cys39Leu) variant details
- p.Cys39Leu
- gnomAD 13-27622959-A-ACA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 28.60
- Population evidence available
- Structural context available
- Literature evidence available