R38H (p.Arg38His) variant of PIK3CA (P42336)
R38H (p.Arg38His) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs772110575
- ClinGen CA2710498
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55879
- Likely pathogenic
- Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR p
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.65
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Overgrowth syndrome and/or cerebral malformations due to abnorma)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Population evidence available
- Structural context available
- Cited in: Functional analysis of PIK3CA gene mutations in human colorectal cancer. (PMID 15930273)
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)