R93W (p.Arg93Trp) variant of PIK3CA (P42336)
R93W (p.Arg93Trp) 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; Megalencephaly-capillary malformation-polymi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
R93W (p.Arg93Trp) variant details
- p.Arg93Trp
- rs1724342112
- ClinGen CA355272477
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55874
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymi
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.88
- MetaLR 0.46
- MetaSVM -0.09
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.74
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; Megalencephaly-capillary mal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)