D350G (p.Asp350Gly) variant of PIK3CA (P42336)
D350G (p.Asp350Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
D350G (p.Asp350Gly) variant details
- p.Asp350Gly
- rs1553821144
- ClinGen CA355281594
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55877
- Pathogenic
- PIK3CA related overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.99
- MetaLR 0.33
- MetaSVM -0.51
- PolyPhen-2 0.92
- SIFT 0.01
- EVE 0.23
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)