R88Q (p.Arg88Gln) variant of PIK3CA (P42336)
R88Q (p.Arg88Gln) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cowden syndrome 5; PIK3CA related overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs121913287
- ClinGen CA16602516
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55874
- Pathogenic
- Cowden syndrome 5; PIK3CA related overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.02
- PolyPhen-2 0.86
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (Cowden syndrome 5; PIK3CA related overgrowth syndrome; not provi)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: PIK3CA mutations in glioblastoma multiforme. (PMID 15924253)
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)