S109P (p.Ser109Pro) variant of ETV4 (ETS translocation variant 4)
S109P (p.Ser109Pro) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
S109P (p.Ser109Pro) variant details
- p.Ser109Pro
- ExAC rs755163567
- gnomAD rs755163567
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)