R68Q (p.Arg68Gln) variant of CDC42 (P60953)
R68Q (p.Arg68Gln) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- rs1553196096
- ClinGen CA338906652
- ClinVar RCV000519757
- ClinVar RCV001291423
- Pathogenic
- not provided; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmor
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.66
- PolyPhen-2 0.68
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (not provided; Macrothrombocytopenia-lymphedema-developmental del)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available