Q57H (p.Gln57His) variant of ETV6 (Transcription factor ETV6)
Q57H (p.Gln57His) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
Q57H (p.Gln57His) variant details
- p.Gln57His
- ExAC rs761341064
- gnomAD rs761341064
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.28
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available