R63C (p.Arg63Cys) variant of DCX (O43602)
R63C (p.Arg63Cys) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
R63C (p.Arg63Cys) variant details
- p.Arg63Cys
- rs587783529
- ClinGen CA171875
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57571
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.94
- MetaLR 0.92
- MetaSVM 1.03
- SIFT 0.00
- EVE 0.78
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available