T4S (p.Thr4Ser) variant of ETV6 (Transcription factor ETV6)
T4S (p.Thr4Ser) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- ExAC rs758276152
- gnomAD rs758276152
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.08
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available