M1004I (p.Met1004Ile) variant of PIK3CA (P42336)
M1004I (p.Met1004Ile) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PIK3CA related overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
M1004I (p.Met1004Ile) variant details
- p.Met1004Ile
- rs2108429272
- Ensembl rs2108429272
- ClinGen CA16602195
- NCI-TCGA Cosmic COSV5588
- Uncertain significance
- PIK3CA related overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.98
- MetaLR 0.30
- MetaSVM -0.64
- PolyPhen-2 0.10
- SIFT 0.01
- EVE 0.62
- ClinVar: Uncertain significance (Cowden syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue… (PMID 27631024)