D350N (p.Asp350Asn) variant of PIK3CA (P42336)
D350N (p.Asp350Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
D350N (p.Asp350Asn) variant details
- p.Asp350Asn
- rs1064793349
- ClinGen CA16617847
- NCI-TCGA Cosmic COSV5589
- cosmic curated COSV55892
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM -0.17
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; not provided)
- 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)