C420R (p.Cys420Arg) variant of PIK3CA (P42336)
C420R (p.Cys420Arg) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PIK3CA-related disorder; CLAPO syndrome; Cowden syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
C420R (p.Cys420Arg) variant details
- p.Cys420Arg
- rs121913272
- ClinGen CA180900
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55874
- Pathogenic
- PIK3CA-related disorder; CLAPO syndrome; Cowden syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.98
- MetaLR 0.40
- MetaSVM -0.37
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.31
- ClinVar: Pathogenic (PIK3CA-related disorder; CLAPO syndrome; Cowden syndrome)
- EBI: Pathogenic (in CLOVE, CRC and CLAPO)
- UniProt: Pathogenic (in CLOVE, CRC and CLAPO)
- Structural context available
- Cited in: Functional analysis of PIK3CA gene mutations in human colorectal cancer. (PMID 15930273)
- Cited in: Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. (PMID 22658544)