R3P (p.Arg3Pro) variant of ETV4 (ETS translocation variant 4)
R3P (p.Arg3Pro) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs1426178575
- TOPMed rs1426178575
- gnomAD rs1426178575
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.01
- CADD 24.40
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)