P449L (p.Pro449Leu) variant of PIK3CA (P42336)
P449L (p.Pro449Leu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
P449L (p.Pro449Leu) variant details
- p.Pro449Leu
- rs1278986760
- ClinGen CA355261914
- NCI-TCGA Cosmic COSV5589
- cosmic curated COSV55899
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; Megalencephaly-capillary malformation-polymi
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- AlphaMissense 0.92
- MetaLR 0.54
- MetaSVM 0.11
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; Megalencephaly-capillary mal)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)