M1043I (p.Met1043Ile) variant of PIK3CA (P42336)
M1043I (p.Met1043Ile) 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; Cowden syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
M1043I (p.Met1043Ile) variant details
- p.Met1043Ile
- rs121913283
- ClinGen CA210107
- NCI-TCGA Cosmic COSV5587
- Pathogenic
- PIK3CA related overgrowth syndrome; Cowden syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- AlphaMissense 0.96
- MetaLR 0.12
- MetaSVM -0.76
- PolyPhen-2 0.14
- SIFT 0.02
- EVE 0.08
- ClinVar: Pathogenic (PIK3CA related overgrowth syndrome; Cowden syndrome; not provide)
- EBI: Pathogenic (in MCAP and CRC)
- UniProt: Pathogenic (in MCAP and CRC)
- Structural context available
- Cited in: Functional analysis of PIK3CA gene mutations in human colorectal cancer. (PMID 15930273)
- Cited in: High frequency of coexistent mutations of PIK3CA and PTEN genes in endometrial carcinoma. (PMID 16322209)