R108C (p.Arg108Cys) variant of PIK3CA (P42336)
R108C (p.Arg108Cys) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome. The record also includes structural context.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- cosmic curated COSV55909
- Ensembl rs2108386320
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available