Q105E (p.Gln105Glu) variant of ETV1 (ETS translocation variant 1)
Q105E (p.Gln105Glu) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q105E (p.Gln105Glu) variant details
- p.Gln105Glu
- ExAC rs753912647
- gnomAD rs753912647
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 0.44
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available