I31M (p.Ile31Met) variant of PIK3CA (P42336)
I31M (p.Ile31Met) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
I31M (p.Ile31Met) variant details
- p.Ile31Met
- rs2108385317
- ClinGen CA355270988
- cosmic curated COSV55898
- ClinVar RCV001837031
- Uncertain significance
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.58
- ClinVar: Uncertain significance (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available