D939G (p.Asp939Gly) variant of PIK3CA (P42336)
D939G (p.Asp939Gly) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of See cases; Segmental undergrowth associated with mainly venous malformation with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
D939G (p.Asp939Gly) variant details
- p.Asp939Gly
- rs2108424902
- ClinGen CA355280828
- NCI-TCGA Cosmic COSV5591
- cosmic curated COSV55911
- Pathogenic/Likely pathogenic
- See cases; Segmental undergrowth associated with mainly venous malformation with
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- AlphaMissense 0.77
- MetaLR 0.16
- MetaSVM -0.76
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.04
- ClinVar: Pathogenic/Likely pathogenic (See cases; Segmental undergrowth associated with mainly venous m)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)