Q546E (p.Gln546Glu) variant of PIK3CA (P42336)
Q546E (p.Gln546Glu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PIK3CA related overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
Q546E (p.Gln546Glu) variant details
- p.Gln546Glu
- rs121913286
- ClinGen CA123331
- NCI-TCGA Cosmic COSV5587
- NCI-TCGA Cosmic COSV5588
- Likely pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- AlphaMissense 0.88
- MetaLR 0.38
- MetaSVM -0.39
- PolyPhen-2 0.98
- SIFT 0.17
- EVE 0.55
- ClinVar: Likely pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available
- Cited in: Mutation of the PIK3CA gene in ovarian and breast cancer. (PMID 15520168)
- Cited in: PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. (PMID 16353168)