A19G (p.Ala19Gly) variant of POLR1D (P0DPB6)
A19G (p.Ala19Gly) in POLR1D (P0DPB6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- TOPMed rs1555271293
- gnomAD rs1555271293
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.18
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available