D725N (p.Asp725Asn) variant of PIK3CA (P42336)
D725N (p.Asp725Asn) 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 0.50 / 1. The record also includes published literature and structural context.
D725N (p.Asp725Asn) variant details
- p.Asp725Asn
- rs2108413895
- ClinGen CA355269194
- NCI-TCGA Cosmic COSV5591
- cosmic curated COSV55913
- Likely pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.39
- MetaLR 0.55
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.48
- EVE 0.24
- ClinVar: Likely pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)