V344G (p.Val344Gly) variant of PIK3CA (P42336)
V344G (p.Val344Gly) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
V344G (p.Val344Gly) variant details
- p.Val344Gly
- rs1057519941
- ClinGen CA16602929
- cosmic curated COSV55876
- ClinVar RCV000785595
- Likely pathogenic
- Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Likely pathogenic (Ovarian neoplasm)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)