G24S (p.Gly24Ser) variant of POLE (Q07864)
G24S (p.Gly24Ser) 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 0.31 / 1. The record also includes structural context.
G24S (p.Gly24Ser) variant details
- p.Gly24Ser
- rs2136034939
- ClinGen CA387370695
- cosmic curated COSV57686
- ClinVar RCV003658847
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.14
- MetaLR 0.03
- MetaSVM -1.02
- PolyPhen-2 0.81
- SIFT 0.01
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available