R78C (p.Arg78Cys) variant of DCX (O43602)
R78C (p.Arg78Cys) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- rs587783535
- ClinGen CA171893
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57570
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.78
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available