E28D (p.Glu28Asp) variant of TCF7L2 (Transcription factor 7-like 2)
E28D (p.Glu28Asp) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs373425129
- 1000Genomes rs373425129
- ESP rs373425129
- ExAC rs373425129
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)