L21I (p.Leu21Ile) variant of PIK3CA (P42336)
L21I (p.Leu21Ile) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome. The record also includes published literature and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- rs781473521
- ClinGen CA355270715
- ClinVar RCV003590947
- ExAC rs781473521
- Uncertain significance
- Cowden syndrome
- Missense
- ClinVar: Uncertain significance (Cowden syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)