Q546R (p.Gln546Arg) variant of PIK3CA (P42336)
Q546R (p.Gln546Arg) 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; not provided; Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
Q546R (p.Gln546Arg) variant details
- p.Gln546Arg
- rs397517201
- ClinGen CA136371
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- PIK3CA related overgrowth syndrome; not provided; Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.90
- MetaLR 0.40
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.61
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; not provided; Ovarian neopla)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available
- Cited in: PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. (PMID 16353168)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)