P128S (p.Pro128Ser) variant of ETV5 (ETS translocation variant 5)
P128S (p.Pro128Ser) in ETV5 (ETS translocation variant 5) 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.
P128S (p.Pro128Ser) variant details
- p.Pro128Ser
- TOPMed rs1473039511
- gnomAD rs1473039511
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)