Y64C (p.Tyr64Cys) variant of CDC42 (P60953)
Y64C (p.Tyr64Cys) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Macrothrombocytopenia-lymphedema-developmental delay-fa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
Y64C (p.Tyr64Cys) variant details
- p.Tyr64Cys
- rs864309721
- ClinGen CA278804
- ClinVar RCV000203307
- ClinVar RCV000489915
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Macrothrombocytopenia-lymphedema-developmental delay-fa
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Macrothrombocytopenia-lymphedema-develo)
- EBI: Pathogenic (in TKS)
- UniProt: Pathogenic (in TKS)
- Structural context available
- Cited in: Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and… (PMID 26386261)
- Cited in: Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. (PMID 26708094)