R66G (p.Arg66Gly) variant of CDC42 (P60953)
R66G (p.Arg66Gly) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R66G (p.Arg66Gly) variant details
- p.Arg66Gly
- rs797044870
- ClinGen CA204641
- ClinVar RCV000190678
- ClinVar RCV000601199
- Pathogenic
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 29.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic (Macrothrombocytopenia-lymphedema-developmental delay-facial dysm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (PMID 29394990)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)