C378R (p.Cys378Arg) variant of PIK3CA (P42336)
C378R (p.Cys378Arg) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; CLOVES syndrome; Megalencephaly-capillary malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C378R (p.Cys378Arg) variant details
- p.Cys378Arg
- rs1724507777
- ClinGen CA355283139
- NCI-TCGA Cosmic COSV5588
- cosmic curated COSV55882
- Pathogenic
- Inborn genetic diseases; CLOVES syndrome; Megalencephaly-capillary malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 0.71
- SIFT 0.31
- ClinVar: Pathogenic (Inborn genetic diseases; CLOVES syndrome; Megalencephaly-capilla)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Population evidence available
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)