S17P (p.Ser17Pro) variant of ETV5 (ETS translocation variant 5)
S17P (p.Ser17Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S17P (p.Ser17Pro) variant details
- p.Ser17Pro
- TOPMed rs1350949096
- gnomAD rs1350949096
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.08
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)