C378Y (p.Cys378Tyr) variant of PIK3CA (P42336)
C378Y (p.Cys378Tyr) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA-related disorder; PIK3CA related overgrowth syndrome; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C378Y (p.Cys378Tyr) variant details
- p.Cys378Tyr
- rs397514565
- ClinGen CA130469
- NCI-TCGA Cosmic COSV5593
- NCI-TCGA Cosmic COSV5595
- Pathogenic
- PIK3CA-related disorder; PIK3CA related overgrowth syndrome; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.65
- CADD 22.60
- PolyPhen-2 0.40
- SIFT 0.86
- ClinVar: Pathogenic (PIK3CA-related disorder; PIK3CA related overgrowth syndrome; Cow)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Population evidence available
- Structural context available
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)