F83S (p.Phe83Ser) variant of PIK3CA (P42336)
F83S (p.Phe83Ser) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CLAPO syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
F83S (p.Phe83Ser) variant details
- p.Phe83Ser
- rs1560137208
- ClinGen CA355272265
- NCI-TCGA Cosmic COSV5592
- cosmic curated COSV55924
- Pathogenic
- CLAPO syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.10
- MetaLR 0.08
- MetaSVM -0.91
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.60
- ClinVar: Pathogenic (CLAPO syndrome)
- EBI: Pathogenic (in CLAPO)
- UniProt: Pathogenic (in CLAPO)
- Structural context available
- Cited in: CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and… (PMID 29446767)
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)