T230P (p.Thr230Pro) variant of DCX (O43602)
T230P (p.Thr230Pro) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
T230P (p.Thr230Pro) variant details
- p.Thr230Pro
- rs587783581
- ClinGen CA172054
- ClinVar RCV000145884
- gnomAD rs587783581
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available