N345K (p.Asn345Lys) variant of PIK3CA (P42336)
N345K (p.Asn345Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial cancer of breast; Congenital macrodactylia; Epidermal nevus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
N345K (p.Asn345Lys) variant details
- p.Asn345Lys
- rs121913284
- ClinGen CA16602517
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic
- Familial cancer of breast; Congenital macrodactylia; Epidermal nevus
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.33
- PolyPhen-2 1.00
- SIFT 0.34
- EVE 0.49
- ClinVar: Pathogenic (Familial cancer of breast; Congenital macrodactylia; Epidermal n)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Lynch Syndrome. (PMID 20301390)