R93Q (p.Arg93Gln) variant of PIK3CA (P42336)
R93Q (p.Arg93Gln) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA constitutional syndrome; Hypospadias; Macrocephaly. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R93Q (p.Arg93Gln) variant details
- p.Arg93Gln
- rs1064793663
- ClinGen CA16617846
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55877
- Pathogenic
- PIK3CA constitutional syndrome; Hypospadias; Macrocephaly
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.98
- MetaLR 0.59
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.69
- ClinVar: Pathogenic (PIK3CA constitutional syndrome; Hypospadias; Macrocephaly)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)