I13V (p.Ile13Val) variant of PIK3CA (P42336)
I13V (p.Ile13Val) 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 0.32 / 1. The record also includes published literature and structural context.
I13V (p.Ile13Val) variant details
- p.Ile13Val
- rs2108385090
- ClinGen CA355270453
- ClinVar RCV001964254
- Ensembl rs2108385090
- Uncertain significance
- Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.22
- MutPred 0.48
- ClinVar: Uncertain significance (Cowden syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)