R597P (p.Arg597Pro) variant of DCC (Netrin receptor DCC)
R597P (p.Arg597Pro) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Corpus callosum, agenesis of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
R597P (p.Arg597Pro) variant details
- p.Arg597Pro
- rs1057519056
- ClinGen CA16044032
- ClinVar RCV000416340
- UniProt VAR 079146
- Pathogenic
- Corpus callosum, agenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.28
- MetaLR 0.36
- MetaSVM -0.40
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.76
- ClinVar: Pathogenic (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: Mutations in DCC cause congenital mirror movements. (PMID 20431009)