R108H (p.Arg108His) variant of PIK3CA (P42336)
R108H (p.Arg108His) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PIK3CA constitutional syndrome; not provided; Megalencephaly-capillary malformat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R108H (p.Arg108His) variant details
- p.Arg108His
- rs886042002
- ClinGen CA10602871
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55873
- Pathogenic/Likely pathogenic
- PIK3CA constitutional syndrome; not provided; Megalencephaly-capillary malformat
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (PIK3CA constitutional syndrome; not provided; Megalencephaly-cap)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. (PMID 23519317)
- Cited in: Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. (PMID 25190698)