G118D (p.Gly118Asp) variant of PIK3CA (P42336)
G118D (p.Gly118Asp) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome; Cowden syndrome; Angioosteohypertrophic synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G118D (p.Gly118Asp) variant details
- p.Gly118Asp
- rs587777790
- ClinGen CA170883
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55877
- Pathogenic
- PIK3CA related overgrowth syndrome; Cowden syndrome; Angioosteohypertrophic synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.99
- MetaLR 0.21
- MetaSVM -0.84
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.50
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; Cowden syndrome; Angioosteoh)
- EBI: Pathogenic (in CWS5)
- UniProt: Pathogenic (in CWS5)
- Structural context available
- Cited in: Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. (PMID 23246288)
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)