G364R (p.Gly364Arg) variant of PIK3CA (P42336)
G364R (p.Gly364Arg) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA related overgrowth syndrome; not provided; Megalencephaly-capillary malfo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G364R (p.Gly364Arg) variant details
- p.Gly364Arg
- rs1576935161
- ClinGen CA355282856
- NCI-TCGA Cosmic COSV5590
- cosmic curated COSV55903
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; not provided; Megalencephaly-capillary malfo
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.22
- SIFT 0.27
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; not provided; Megalencephaly)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Population evidence available
- 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)