R115P (p.Arg115Pro) variant of PIK3CA (P42336)
R115P (p.Arg115Pro) 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; PIK3CA-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
R115P (p.Arg115Pro) variant details
- p.Arg115Pro
- rs200018596
- ClinGen CA355272733
- NCI-TCGA Cosmic COSV5589
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; not provided; PIK3CA-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.62
- PolyPhen-2 0.90
- SIFT 0.02
- MutPred 0.51
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; not provided; PIK3CA-related)
- EBI: Pathogenic (in CLAPO and MADAC)
- UniProt: Pathogenic (in CLAPO and MADAC)
- Structural context available
- Cited in: Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. (PMID 23100325)
- Cited in: CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and… (PMID 29446767)