A28S (p.Ala28Ser) variant of ETV6 (Transcription factor ETV6)
A28S (p.Ala28Ser) 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 0.12 / 1. The record also includes population frequency data and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- ESP rs34966596
- ExAC rs34966596
- TOPMed rs34966596
- gnomAD rs34966596
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.123
- REVEL 0.09
- CADD 5.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available