I21T (p.Ile21Thr) variant of CDC42 (P60953)
I21T (p.Ile21Thr) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs1064795845
- ClinGen CA16617069
- ClinVar RCV000481008
- ClinVar RCV000601771
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.37
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.37
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (PMID 29394990)