Q107E (p.Gln107Glu) variant of ETV1 (ETS translocation variant 1)
Q107E (p.Gln107Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
Q107E (p.Gln107Glu) variant details
- p.Gln107Glu
- gnomAD rs1787173565
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.17
- CADD 24.20
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available