Q39E (p.Gln39Glu) variant of POLE (Q07864)
Q39E (p.Gln39Glu) 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 0.28 / 1. The record also includes structural context.
Q39E (p.Gln39Glu) variant details
- p.Gln39Glu
- rs2136034450
- ClinGen CA387370323
- ClinVar RCV003675092
- Ensembl rs2136034450
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.10
- MetaLR 0.01
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available