T183I (p.Thr183Ile) variant of DCX (O43602)
T183I (p.Thr183Ile) 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 0.87 / 1. The record also includes published literature and structural context.
T183I (p.Thr183Ile) variant details
- p.Thr183Ile
- rs2147263018
- ClinGen CA414246120
- ClinVar RCV002250860
- Ensembl rs2147263018
- Likely pathogenic
- Lissencephaly type 1 due to doublecortin gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.92
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Lissencephaly type 1 due to doublecortin gene mutation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: DCX-Related Disorders. (PMID 20301364)