R178G (p.Arg178Gly) variant of DCX (O43602)
R178G (p.Arg178Gly) 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 0.83 / 1. The record also includes structural context.
R178G (p.Arg178Gly) variant details
- p.Arg178Gly
- rs587783558
- ClinGen CA171977
- ClinVar RCV000145853
- Ensembl rs587783558
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.92
- MetaLR 0.86
- MetaSVM 0.91
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available