H179P (p.His179Pro) variant of ETV5 (ETS translocation variant 5)
H179P (p.His179Pro) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Myoepithelial tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
H179P (p.His179Pro) variant details
- p.His179Pro
- NCI-TCGA TCGA novel
- Pathogenic
- Myoepithelial tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.11
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Pathogenic (Myoepithelial tumor)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:BEB population (allele frequency 0.5)