H1047Y (p.His1047Tyr) variant of PIK3CA (P42336)
H1047Y (p.His1047Tyr) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neoplasm of stomach; Familial cancer of breast; Seborrheic keratosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
H1047Y (p.His1047Tyr) variant details
- p.His1047Tyr
- rs121913281
- ClinGen CA130471
- NCI-TCGA Cosmic COSV5587
- NCI-TCGA Cosmic COSV5591
- Pathogenic
- Neoplasm of stomach; Familial cancer of breast; Seborrheic keratosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- AlphaMissense 0.56
- MetaLR 0.34
- MetaSVM -0.39
- PolyPhen-2 0.60
- SIFT 0.01
- EVE 0.53
- ClinVar: Pathogenic (Neoplasm of stomach; Familial cancer of breast; Seborrheic kerat)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. (PMID 16322209)
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)