p.Glu28 Gln31del variant of POLR1D (P0DPB6)
p.Glu28 Gln31del in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Glu28 Gln31del variant details
- gnomAD 13-27622928-TGGAA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available