I112N (p.Ile112Asn) variant of PIK3CA (P42336)
I112N (p.Ile112Asn) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
I112N (p.Ile112Asn) variant details
- p.Ile112Asn
- rs863225460
- ClinGen CA213349
- cosmic curated COSV55930
- ClinVar RCV000202414
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.76
- MetaLR 0.39
- MetaSVM -0.30
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.33
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Pathogenic (in MCAP)
- UniProt: Pathogenic (in MCAP)
- Structural context available
- Cited in: Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental… (PMID 26593112)
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)