N564D (p.Asn564Asp) variant of PIK3R1 (P27986)
N564D (p.Asn564Asp) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
N564D (p.Asn564Asp) variant details
- p.Asn564Asp
- rs1057519841
- ClinGen CA16602710
- cosmic curated COSV57124
- ClinVar RCV001290352
- Pathogenic
- Vascular malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.36
- CADD 27.40
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Pathogenic (Vascular malformation)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)