E21V (p.Glu21Val) variant of ETV6 (Transcription factor ETV6)
E21V (p.Glu21Val) in ETV6 (Transcription factor ETV6) 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 0.26 / 1. The record also includes population frequency data and structural context.
E21V (p.Glu21Val) variant details
- p.Glu21Val
- ESP rs139212214
- ExAC rs139212214
- TOPMed rs139212214
- gnomAD rs139212214
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.03
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.79
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available