H1047R (p.His1047Arg) variant of PIK3CA (P42336)
H1047R (p.His1047Arg) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. 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.
H1047R (p.His1047Arg) variant details
- p.His1047Arg
- rs121913279
- ClinGen CA123326
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- 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 (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in CLOVE, KERSEB, CRC, BC, OC, MADAC, CCM4 and HFMH)
- UniProt: Pathogenic (in CLOVE, KERSEB, CRC, BC, OC, MADAC, CCM4 and HFMH)
- Population evidence available
- Structural context available
- Cited in: High frequency of mutations of the PIK3CA gene in human cancers. (PMID 15016963)
- Cited in: Mutations of PIK3CA in anaplastic oligodendrogliomas, high-grade astrocytomas, and medulloblastomas. (PMID 15289301)