A52E (p.Ala52Glu) variant of ETV6 (Transcription factor ETV6)
A52E (p.Ala52Glu) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A52E (p.Ala52Glu) variant details
- p.Ala52Glu
- ExAC rs774396176
- TOPMed rs774396176
- gnomAD rs774396176
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.18
- CADD 24.10
- PolyPhen-2 0.56
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available