A19V (p.Ala19Val) variant of POLR1D (P0DPB6)
A19V (p.Ala19Val) in POLR1D (P0DPB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs1555271293
- ClinGen CA387634742
- ClinVar RCV000497583
- TOPMed rs1555271293
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.11
- MetaLR 0.54
- MetaSVM -0.11
- SIFT 0.32
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available