R22Q (p.Arg22Gln) variant of DCX (O43602)
R22Q (p.Arg22Gln) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs866795080
- ClinGen CA334420949
- NCI-TCGA Cosmic COSV1005
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.55
- MetaLR 0.18
- MetaSVM -0.82
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available