G13K (p.Gly13Lys) variant of POLR1D (P0DPB6)
G13K (p.Gly13Lys) in POLR1D (P0DPB6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G13K (p.Gly13Lys) variant details
- p.Gly13Lys
- gnomAD 13-27622009-G-GAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available