K111N (p.Lys111Asn) variant of PIK3CA (P42336)
K111N (p.Lys111Asn) 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 0.56 / 1. The record also includes published literature and structural context.
K111N (p.Lys111Asn) variant details
- p.Lys111Asn
- rs1057519934
- NCI-TCGA Cosmic COSV5587
- cosmic curated COSV55876
- NCI-TCGA Cosmic COSV5589
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.98
- MetaLR 0.58
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)