N1044S (p.Asn1044Ser) variant of PIK3CA (P42336)
N1044S (p.Asn1044Ser) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA constitutional syndrome; Cowden syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
N1044S (p.Asn1044Ser) variant details
- p.Asn1044Ser
- rs1064793838
- ClinGen CA16617853
- NCI-TCGA Cosmic COSV5587
- NCI-TCGA Cosmic COSV9983
- Pathogenic
- PIK3CA constitutional syndrome; Cowden syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.32
- MetaLR 0.42
- MetaSVM -0.30
- PolyPhen-2 0.96
- SIFT 0.02
- EVE 0.21
- ClinVar: Pathogenic (PIK3CA constitutional syndrome; Cowden syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)