T19I (p.Thr19Ile) variant of ERBB4 (Q15303)
T19I (p.Thr19Ile) in ERBB4 (Q15303) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- NCI-TCGA Cosmic COSV5355
- cosmic curated COSV53558
- TOPMed rs1693238142
- gnomAD rs1693238142
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.31
- CADD 24.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available