M1040I (p.Met1040Ile) variant of PIK3CA (P42336)
M1040I (p.Met1040Ile) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of urinary bladder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
M1040I (p.Met1040Ile) variant details
- p.Met1040Ile
- rs2108429797
- ClinGen CA355285788
- NCI-TCGA Cosmic COSV5587
- ClinVar RCV003332975
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.57
- MetaLR 0.27
- MetaSVM -0.69
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.11
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available