V344M (p.Val344Met) variant of PIK3CA (P42336)
V344M (p.Val344Met) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA related overgrowth syndrome; Inborn genetic diseases; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
V344M (p.Val344Met) variant details
- p.Val344Met
- rs1057519942
- ClinGen CA16602930
- cosmic curated COSV55881
- ClinVar RCV000485942
- Pathogenic
- PIK3CA related overgrowth syndrome; Inborn genetic diseases; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.98
- MetaLR 0.51
- MetaSVM -0.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; Inborn genetic diseases; Cow)
- 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)