G7W (p.Gly7Trp) variant of POLE (Q07864)
G7W (p.Gly7Trp) 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 0.20 / 1. The record also includes population frequency data and structural context.
G7W (p.Gly7Trp) variant details
- p.Gly7Trp
- rs771930571
- ClinGen CA387373489
- ClinVar RCV003776738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available