E45K (p.Glu45Lys) variant of ETV6 (Transcription factor ETV6)
E45K (p.Glu45Lys) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- gnomAD rs1441890339
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.16
- CADD 25.70
- PolyPhen-2 0.14
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available