Y119H (p.Tyr119His) variant of ETV1 (ETS translocation variant 1)
Y119H (p.Tyr119His) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y119H (p.Tyr119His) variant details
- p.Tyr119His
- TOPMed rs1288074041
- gnomAD rs1288074041
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.46
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available