T222I (p.Thr222Ile) variant of DCX (O43602)
T222I (p.Thr222Ile) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lissencephaly type 1 due to doublecortin gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
T222I (p.Thr222Ile) variant details
- p.Thr222Ile
- rs1603423268
- cosmic curated COSV10464
- ClinGen CA414245878
- ClinVar RCV000984506
- Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.99
- MetaLR 0.69
- MetaSVM 0.31
- SIFT 0.00
- EVE 0.35
- ClinVar: Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. (PMID 9989615)
- Cited in: DCX-Related Disorders. (PMID 20301364)