S97P (p.Ser97Pro) variant of ETV1 (ETS translocation variant 1)
S97P (p.Ser97Pro) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S97P (p.Ser97Pro) variant details
- p.Ser97Pro
- ESP rs371614424
- ExAC rs371614424
- TOPMed rs371614424
- gnomAD rs371614424
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.22
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available