G1049S (p.Gly1049Ser) variant of PIK3CA (P42336)
G1049S (p.Gly1049Ser) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Megalencephaly-capillary malformation-polymicrogyria syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
G1049S (p.Gly1049Ser) variant details
- p.Gly1049Ser
- rs121913277
- ClinGen CA16602700
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- not provided; Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.96
- MetaLR 0.42
- MetaSVM -0.39
- PolyPhen-2 0.30
- SIFT 0.29
- EVE 0.45
- ClinVar: Pathogenic (not provided; Megalencephaly-capillary malformation-polymicrogyr)
- 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: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)