E28Q (p.Glu28Gln) variant of TCF7L2 (Transcription factor 7-like 2)
E28Q (p.Glu28Gln) in TCF7L2 (Transcription factor 7-like 2) 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 0.79 / 1. The record also includes structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs2134177455
- ClinGen CA378531463
- ClinVar RCV003422884
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.58
- MetaLR 0.96
- MetaSVM 1.00
- PolyPhen-2 0.78
- SIFT 0.15
- EVE 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available