Q5L (p.Gln5Leu) variant of POLR1D (P0DPB6)
Q5L (p.Gln5Leu) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- gnomAD 13-27621997-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.64
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available