D91N (p.Asp91Asn) variant of PIK3CA (P42336)
D91N (p.Asp91Asn) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
D91N (p.Asp91Asn) variant details
- p.Asp91Asn
- rs1724341846
- ClinGen CA355272438
- ClinVar RCV001289462
- Ensembl rs1724341846
- Pathogenic
- PIK3CA related overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.99
- MetaLR 0.56
- MetaSVM 0.08
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.53
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome)
- 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)