I214T (p.Ile214Thr) variant of DCX (O43602)
I214T (p.Ile214Thr) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
I214T (p.Ile214Thr) variant details
- p.Ile214Thr
- rs587783574
- ClinGen CA172041
- ClinVar RCV000145877
- UniProt VAR 007836
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.13
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)