R47* (p.Arg47Ter) variant of ERBB4 (Q15303)
R47* (p.Arg47Ter) in ERBB4 (Q15303) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R47* (p.Arg47Ter) variant details
- p.Arg47Ter
- rs772401914
- ClinGen CA2088516
- cosmic curated COSV10961
- ClinVar RCV002002868
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)