P46R (p.Pro46Arg) variant of ETV4 (ETS translocation variant 4)
P46R (p.Pro46Arg) in ETV4 (ETS translocation variant 4) 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.
P46R (p.Pro46Arg) variant details
- p.Pro46Arg
- ExAC rs780316290
- gnomAD rs780316290
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.18
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)