S62S (p.Ser62Ser) variant of ETV6 (Transcription factor ETV6)
S62S (p.Ser62Ser) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
S62S (p.Ser62Ser) variant details
- p.Ser62Ser
- gnomAD 12-11839162-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 13.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available