G93S (p.Gly93Ser) variant of RET (P07949)
G93S (p.Gly93Ser) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hirschsprung disease, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G93S (p.Gly93Ser) variant details
- p.Gly93Ser
- rs1477699803
- ClinGen CA376770471
- ClinVar RCV003990837
- UniProt VAR 006297
- Likely pathogenic
- Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.84
- MetaLR 0.84
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Hirschsprung disease, susceptibility to, 1)
- EBI: Likely pathogenic (in HSCR1)
- UniProt: Likely pathogenic (in HSCR1)
- Structural context available
- Cited in: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. (PMID 7633441)
- Cited in: Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung… (PMID 10090908)