Y16H (p.Tyr16His) variant of ETV4 (ETS translocation variant 4)
Y16H (p.Tyr16His) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- rs2544212909
- ClinGen CA399721208
- ClinVar RCV004264842
- NCI-TCGA TCGA novel
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.15
- CADD 28.40
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)