T18T (p.Thr18Thr) variant of ETV6 (Transcription factor ETV6)
T18T (p.Thr18Thr) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- rs1866050923
- gnomAD 12-11752470-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available