I11Y (p.Ile11Tyr) variant of POLR1D (P0DPB6)
I11Y (p.Ile11Tyr) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
I11Y (p.Ile11Tyr) variant details
- p.Ile11Tyr
- gnomAD 13-27622874-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 35.00
- Population evidence available
- Structural context available
- Literature evidence available