Y120D (p.Tyr120Asp) variant of ETV5 (ETS translocation variant 5)
Y120D (p.Tyr120Asp) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
Y120D (p.Tyr120Asp) variant details
- p.Tyr120Asp
- TOPMed rs1205730921
- gnomAD rs1205730921
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)