G914R (p.Gly914Arg) variant of PIK3CA (P42336)
G914R (p.Gly914Arg) 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 0.62 / 1. The record also includes published literature and structural context.
G914R (p.Gly914Arg) variant details
- p.Gly914Arg
- rs587776932
- NCI-TCGA Cosmic COSV5593
- NCI-TCGA Cosmic COSV5594
- cosmic curated COSV55944
- Pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.30
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Hemifacial myohyperplasia)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- 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: Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH)… (PMID 22228622)