I31L (p.Ile31Leu) variant of PIK3CA (P42336)
I31L (p.Ile31Leu) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- rs1724335079
- Ensembl rs1724335079
- ClinGen CA355270972
- ClinVar RCV001066888
- Uncertain significance
- Inborn genetic diseases; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.25
- MetaLR 0.15
- MetaSVM -0.93
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Inborn genetic diseases; Cowden syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)