H45Q (p.His45Gln) variant of POLR1D (P0DPB6)
H45Q (p.His45Gln) 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.
H45Q (p.His45Gln) variant details
- p.His45Gln
- gnomAD 13-27622983-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.56
- CADD 20.70
- PolyPhen-2 0.21
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available