A893T (p.Ala893Thr) variant of DCC (Netrin receptor DCC)
A893T (p.Ala893Thr) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A893T (p.Ala893Thr) variant details
- p.Ala893Thr
- rs1057519057
- ClinGen CA16044036
- ClinVar RCV000416342
- UniProt VAR 079151
- Pathogenic
- Corpus callosum, agenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Pathogenic (Corpus callosum, agenesis of)
- EBI: Pathogenic (in MRMV1)
- UniProt: Pathogenic (in MRMV1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)