Q546L (p.Gln546Leu) variant of PIK3CA (P42336)
Q546L (p.Gln546Leu) 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 0.52 / 1. The record also includes published literature and structural context.
Q546L (p.Gln546Leu) variant details
- p.Gln546Leu
- rs397517201
- cosmic curated COSV55877
- ClinVar RCV005251518
- Ensembl rs397517201
- Likely pathogenic
- PIK3CA related overgrowth syndrome
- 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: Likely pathogenic (PIK3CA related overgrowth syndrome)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue… (PMID 27631024)