D65E (p.Asp65Glu) variant of ETV1 (ETS translocation variant 1)
D65E (p.Asp65Glu) in ETV1 (ETS translocation variant 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.50 / 1. The record also includes population frequency data and structural context.
D65E (p.Asp65Glu) variant details
- p.Asp65Glu
- rs1295869839
- ClinGen CA366865803
- ClinVar RCV004366186
- gnomAD rs1295869839
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.29
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available