S47P (p.Ser47Pro) variant of ETV6 (Transcription factor ETV6)
S47P (p.Ser47Pro) 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 0.37 / 1. The record also includes population frequency data and structural context.
S47P (p.Ser47Pro) variant details
- p.Ser47Pro
- ExAC rs781022272
- TOPMed rs781022272
- gnomAD rs781022272
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.20
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available