D67E (p.Asp67Glu) variant of ETV1 (ETS translocation variant 1)
D67E (p.Asp67Glu) 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 0.24 / 1. The record also includes population frequency data and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- rs1583875334
- ClinGen CA366865762
- ClinVar RCV004383129
- TOPMed rs1583875334
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.56
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available