D131E (p.Asp131Glu) variant of ETV4 (ETS translocation variant 4)
D131E (p.Asp131Glu) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
D131E (p.Asp131Glu) variant details
- p.Asp131Glu
- TOPMed rs934111095
- gnomAD rs934111095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.08
- CADD 18.90
- PolyPhen-2 0.02
- SIFT 0.52
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)