Q546K (p.Gln546Lys) variant of PIK3CA (P42336)
Q546K (p.Gln546Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Megalencephaly-capillary malformation-polymicrogyria syndrome; Seg. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
Q546K (p.Gln546Lys) variant details
- p.Gln546Lys
- rs121913286
- ClinGen CA123338
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic
- not provided; Megalencephaly-capillary malformation-polymicrogyria syndrome; Seg
- 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: Pathogenic (not provided; Megalencephaly-capillary malformation-polymicrogyr)
- EBI: Pathogenic (in OC)
- UniProt: Pathogenic (in OC)
- Structural context available
- Cited in: Mutation of the PIK3CA gene in ovarian and breast cancer. (PMID 15520168)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)