M1T (p.Met1Thr) variant of DCC (Netrin receptor DCC)
M1T (p.Met1Thr) in DCC (Netrin receptor DCC) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Partial agenesis of the corpus callosum. The record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2144215711
- ClinGen CA402512081
- ClinVar RCV001391260
- Likely pathogenic
- Partial agenesis of the corpus callosum
- Missense
- MutPred 0.57
- ClinVar: Likely pathogenic (Partial agenesis of the corpus callosum)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available