L15F (p.Leu15Phe) variant of PIK3CA (P42336)
L15F (p.Leu15Phe) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs751930632
- ClinGen CA2710491
- cosmic curated COSV11399
- ClinVar RCV002342371
- Uncertain significance
- Cowden syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.32
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.12
- ClinVar: Uncertain significance (Cowden syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)