G17C (p.Gly17Cys) variant of POLE (Q07864)
G17C (p.Gly17Cys) in POLE (Q07864) 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 0.13 / 1. The record also includes population frequency data and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- rs1243827536
- ClinGen CA387373344
- ClinVar RCV003577322
- TOPMed rs1243827536
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.04
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available