T1025A (p.Thr1025Ala) variant of PIK3CA (P42336)
T1025A (p.Thr1025Ala) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA related overgrowth syndrome; not provided; Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
T1025A (p.Thr1025Ala) variant details
- p.Thr1025Ala
- rs397517202
- ClinGen CA136374
- NCI-TCGA Cosmic COSV5587
- NCI-TCGA Cosmic COSV5591
- Pathogenic/Likely pathogenic
- PIK3CA related overgrowth syndrome; not provided; Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.82
- MetaLR 0.29
- MetaSVM -0.50
- PolyPhen-2 0.85
- SIFT 0.12
- EVE 0.31
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA related overgrowth syndrome; not provided; Non-small cell)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly… (PMID 22729224)
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)