P449S (p.Pro449Ser) variant of PIK3CA (P42336)
P449S (p.Pro449Ser) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
P449S (p.Pro449Ser) variant details
- p.Pro449Ser
- rs1724674149
- ClinGen CA355261907
- NCI-TCGA Cosmic COSV5593
- NCI-TCGA Cosmic COSV5594
- Pathogenic/Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.62
- MetaLR 0.54
- MetaSVM -0.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic/Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome; n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)