T41R (p.Thr41Arg) variant of POLR1D (P0DPB6)
T41R (p.Thr41Arg) 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.
T41R (p.Thr41Arg) variant details
- p.Thr41Arg
- rs747115559
- gnomAD 13-27650062-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- CADD 9.35
- Population evidence available
- Structural context available
- Literature evidence available