I46T (p.Ile46Thr) variant of CDC42 (P60953)
I46T (p.Ile46Thr) 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 0.52 / 1. The record also includes structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs1570024112
- ClinGen CA338913502
- ClinVar RCV000824997
- Ensembl rs1570024112
- Likely pathogenic
- Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptoda
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.90
- MetaLR 0.52
- MetaSVM 0.15
- PolyPhen-2 0.28
- SIFT 0.00
- EVE 0.51
- ClinVar: Likely pathogenic (Macrothrombocytopenia-lymphedema-developmental delay-facial dysm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available