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 available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. 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
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.06
- MetaLR 0.18
- MetaSVM -0.97
- PolyPhen-2 0.05
- SIFT 0.81
- MutPred 0.34
- 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)