G6C (p.Gly6Cys) variant of POLE (Q07864)
G6C (p.Gly6Cys) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- rs202220778
- ClinGen CA387373505
- ClinVar RCV003656935
- 1000Genomes rs202220778
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0898
- REVEL 0.02
- CADD 16.00
- PolyPhen-2 0.19
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available