N345T (p.Asn345Thr) variant of PIK3CA (P42336)
N345T (p.Asn345Thr) in PIK3CA (P42336) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
N345T (p.Asn345Thr) variant details
- p.Asn345Thr
- rs1057519938
- ClinGen CA16602923
- cosmic curated COSV55902
- ClinVar RCV002051723
- Pathogenic
- Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.97
- MetaLR 0.47
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Megalencephaly-capillary malformation-polymicrogyria syndrome; N)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PIK3CA-Related Overgrowth Spectrum. (PMID 23946963)
- Cited in: Noonan Syndrome. (PMID 20301303)