E33G (p.Glu33Gly) variant of TCF7L2 (Transcription factor 7-like 2)
E33G (p.Glu33Gly) in TCF7L2 (Transcription factor 7-like 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- ESP rs148876270
- ExAC rs148876270
- TOPMed rs148876270
- gnomAD rs148876270
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.06
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available