E970K (p.Glu970Lys) variant of PIK3CA (P42336)
E970K (p.Glu970Lys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cowden syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
E970K (p.Glu970Lys) variant details
- p.Glu970Lys
- rs2108425281
- ClinGen CA355282001
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55875
- Pathogenic/Likely pathogenic
- Cowden syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.53
- MetaLR 0.36
- MetaSVM -0.50
- PolyPhen-2 0.86
- SIFT 1.00
- MutPred 0.59
- ClinVar: Pathogenic/Likely pathogenic (Cowden syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)