K33E (p.Lys33Glu) variant of POLE (Q07864)
K33E (p.Lys33Glu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
K33E (p.Lys33Glu) variant details
- p.Lys33Glu
- rs2136034673
- ClinGen CA387370500
- ClinVar RCV003772465
- Ensembl rs2136034673
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- AlphaMissense 0.37
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.01
- SIFT 0.45
- EVE 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available