S16A (p.Ser16Ala) variant of ETV6 (Transcription factor ETV6)
S16A (p.Ser16Ala) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S16A (p.Ser16Ala) variant details
- p.Ser16Ala
- TOPMed rs1866050780
- gnomAD rs1866050780
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- CADD 22.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available