S47L (p.Ser47Leu) variant of ETV6 (Transcription factor ETV6)
S47L (p.Ser47Leu) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar 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 0.25 / 1. The record also includes population frequency data and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- ExAC rs745855585
- TOPMed rs745855585
- gnomAD rs745855585
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available