R102G (p.Arg102Gly) variant of DCX (O43602)
R102G (p.Arg102Gly) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
R102G (p.Arg102Gly) variant details
- p.Arg102Gly
- rs587783541
- ClinGen CA10603581
- ClinVar RCV000377977
- Ensembl rs587783541
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in LISX1)
- UniProt: Pathogenic (in LISX1)
- Structural context available