Q5P (p.Gln5Pro) variant of POLR1D (P0DPB6)
Q5P (p.Gln5Pro) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q5P (p.Gln5Pro) variant details
- p.Gln5Pro
- gnomAD 13-27621997-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available