E36K (p.Glu36Lys) variant of POLE (Q07864)
E36K (p.Glu36Lys) 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 0.27 / 1. The record also includes structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs370268888
- ClinGen CA387370413
- ClinVar RCV003657991
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -0.93
- PolyPhen-2 0.01
- SIFT 0.53
- EVE 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available