P539R (p.Pro539Arg) variant of PIK3CA (P42336)
P539R (p.Pro539Arg) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
P539R (p.Pro539Arg) variant details
- p.Pro539Arg
- rs121913285
- ClinGen CA16602696
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5587
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 0.91
- MetaLR 0.84
- MetaSVM 0.79
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.47
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic
- UniProt: Likely 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)