E542A (p.Glu542Ala) variant of PIK3CA (P42336)
E542A (p.Glu542Ala) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lip and oral cavity carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
E542A (p.Glu542Ala) variant details
- p.Glu542Ala
- rs1057519927
- ClinGen CA16602907
- cosmic curated COSV55893
- ClinVar RCV001255685
- Pathogenic
- Lip and oral cavity carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- AlphaMissense 0.87
- MetaLR 0.32
- MetaSVM -0.62
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.58
- ClinVar: Pathogenic (Lip and oral cavity carcinoma)
- EBI: Pathogenic (in BC)
- UniProt: Pathogenic (in BC)
- Structural context available