T50A (p.Thr50Ala) variant of POLR1D (P0DPB6)
T50A (p.Thr50Ala) in POLR1D (P0DPB6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T50A (p.Thr50Ala) variant details
- p.Thr50Ala
- TOPMed rs1955965440
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 25.90
- Population evidence available
- Structural context available