A204D (p.Ala204Asp) variant of DCX (O43602)
A204D (p.Ala204Asp) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopic tissue; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
A204D (p.Ala204Asp) variant details
- p.Ala204Asp
- rs587783571
- ClinGen CA172032
- ClinVar RCV000145874
- ClinVar RCV005411350
- Pathogenic
- Ectopic tissue; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 1.00
- MetaLR 0.45
- MetaSVM -0.05
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Ectopic tissue; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available