R196G (p.Arg196Gly) variant of DCX (O43602)
R196G (p.Arg196Gly) 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 0.93 / 1. The record also includes structural context.
R196G (p.Arg196Gly) variant details
- p.Arg196Gly
- rs587783568
- ClinGen CA172014
- ClinVar RCV000145867
- Ensembl rs587783568
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic (in epilepsy)
- UniProt: Pathogenic (in epilepsy)
- Structural context available