R873W (p.Arg873Trp) variant of RET (P07949)
R873W (p.Arg873Trp) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Hirschsprung disease, susceptibility to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
R873W (p.Arg873Trp) variant details
- p.Arg873Trp
- rs1838178513
- ClinGen CA376556992
- ClinVar RCV003150912
- ClinVar RCV003274351
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hirschsprung disease, susceptibility to
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.80
- MetaLR 0.38
- MetaSVM -0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.76
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Hirschsprung disease, s)
- EBI: Likely pathogenic (in HSCR1)
- UniProt: Likely pathogenic (in HSCR1)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)