R897Q (p.Arg897Gln) variant of RET (P07949)
R897Q (p.Arg897Gln) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hirschsprung disease, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
R897Q (p.Arg897Gln) variant details
- p.Arg897Gln
- rs76087194
- ClinGen CA009008
- cosmic curated COSV60687
- ClinVar RCV000014946
- Pathogenic
- Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 0.32
- MetaLR 0.77
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Hirschsprung disease, susceptibility to, 1)
- EBI: Pathogenic (in HSCR1)
- UniProt: Pathogenic (in HSCR1)
- Structural context available
- Cited in: Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. (PMID 7704557)
- Cited in: Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. (PMID 8114938)