C81F (p.Cys81Phe) variant of CDC42 (P60953)
C81F (p.Cys81Phe) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
C81F (p.Cys81Phe) variant details
- p.Cys81Phe
- rs1553196100
- ClinGen CA338906826
- ClinVar RCV000497401
- ClinVar RCV000604971
- Likely pathogenic
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- AlphaMissense 0.99
- MetaLR 0.68
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.53
- ClinVar: Likely pathogenic (Macrothrombocytopenia-lymphedema-developmental delay-facial dysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (PMID 29394990)