H1047L (p.His1047Leu) variant of PIK3CA (P42336)
H1047L (p.His1047Leu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Inborn genetic diseases; Megalencephaly-capillary malformation-pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H1047L (p.His1047Leu) variant details
- p.His1047Leu
- rs121913279
- ClinGen CA123328
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- not provided; Inborn genetic diseases; Megalencephaly-capillary malformation-pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.44
- MetaLR 0.14
- MetaSVM -0.77
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.16
- ClinVar: Pathogenic (not provided; Inborn genetic diseases; Megalencephaly-capillary)
- EBI: Pathogenic (in BC, CLAPO, MADAC and CCM4)
- UniProt: Pathogenic (in BC, CLAPO, MADAC and CCM4)
- Population evidence available
- Structural context available
- Cited in: Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. (PMID 15289301)
- Cited in: Mutation of the PIK3CA gene in ovarian and breast cancer. (PMID 15520168)