R56L (p.Arg56Leu) variant of DCX (O43602)
R56L (p.Arg56Leu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
R56L (p.Arg56Leu) variant details
- p.Arg56Leu
- rs587783525
- ClinGen CA414246964
- ClinVar RCV001200546
- Ensembl rs587783525
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.22
- SIFT 0.00
- EVE 0.91
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available