T203K (p.Thr203Lys) variant of DCX (O43602)
T203K (p.Thr203Lys) 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 0.81 / 1. The record also includes structural context.
T203K (p.Thr203Lys) variant details
- p.Thr203Lys
- rs104894782
- ClinGen CA172029
- ClinVar RCV000145873
- Ensembl rs104894782
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.69
- SIFT 0.04
- EVE 0.79
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available