E35Q (p.Glu35Gln) variant of PIK3CA (P42336)
E35Q (p.Glu35Gln) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E35Q (p.Glu35Gln) variant details
- p.Glu35Gln
- rs2108385365
- ClinGen CA355271107
- ClinVar RCV001889112
- ClinVar RCV004041377
- Uncertain significance
- Cowden syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.38
- MetaLR 0.42
- MetaSVM -0.34
- CADD 23.90
- PolyPhen-2 0.77
- SIFT 0.23
- ClinVar: Uncertain significance (Cowden syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)