V793G (p.Val793Gly) variant of DCC (Netrin receptor DCC)
V793G (p.Val793Gly) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mirror movements 1; Corpus callosum, agenesis of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
V793G (p.Val793Gly) variant details
- p.Val793Gly
- rs1057519054
- ClinGen CA16044034
- ClinVar RCV000416336
- ClinVar RCV000494699
- Pathogenic
- Mirror movements 1; Corpus callosum, agenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- AlphaMissense 0.80
- MetaLR 0.36
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.51
- ClinVar: Pathogenic (Mirror movements 1; Corpus callosum, agenesis of)
- EBI: Pathogenic (in MRMV1)
- UniProt: Pathogenic (in MRMV1)
- Structural context available
- Cited in: Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. (PMID 28250454)
- Cited in: Congenital Mirror Movements. (PMID 25763452)