Q69H (p.Gln69His) variant of ETV4 (ETS translocation variant 4)
Q69H (p.Gln69His) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
Q69H (p.Gln69His) variant details
- p.Gln69His
- gnomAD rs572797949
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.21
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)