T17P (p.Thr17Pro) variant of ETV4 (ETS translocation variant 4)
T17P (p.Thr17Pro) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- TOPMed rs1228086062
- gnomAD rs1228086062
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.21
- CADD 24.20
- PolyPhen-2 0.27
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 0.00041)