E171K (p.Glu171Lys) variant of CDC42 (P60953)
E171K (p.Glu171Lys) in CDC42 (P60953) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Noonan-like syndrome. The record also includes variant effect predictions, published literature, and structural context.
E171K (p.Glu171Lys) variant details
- p.Glu171Lys
- rs1553196539
- ClinGen CA338909618
- NCI-TCGA Cosmic COSV5966
- cosmic curated COSV59661
- Pathogenic
- not provided; Noonan-like syndrome
- Missense
- MetaLR 0.48
- MetaSVM 0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Pathogenic (not provided; Noonan-like syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. (PMID 29394990)