G14S (p.Gly14Ser) variant of POLE (Q07864)
G14S (p.Gly14Ser) 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 0.17 / 1. The record also includes population frequency data and structural context.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs2136052104
- ClinGen CA387373394
- ClinVar RCV003657622
- Ensembl rs2136052104
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.02
- CADD 6.65
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available