R89* (p.Arg89Ter) variant of DCX (O43602)
R89* (p.Arg89Ter) in DCX (O43602) is a protein-truncating 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 0.75 / 1. The record also includes structural context.
R89* (p.Arg89Ter) variant details
- p.Arg89Ter
- rs104894785
- ClinGen CA171899
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57565
- Pathogenic
- in SBHX
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.84
- SIFT 0.00
- EVE 0.41
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available