H89Q (p.His89Gln) variant of ETV4 (ETS translocation variant 4)
H89Q (p.His89Gln) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
H89Q (p.His89Gln) variant details
- p.His89Gln
- TOPMed rs1049373888
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)