N58K (p.Asn58Lys) variant of PTPN11 (Q06124)
N58K (p.Asn58Lys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PTPN11-related disorder; LEOPARD syndrome 1; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
N58K (p.Asn58Lys) variant details
- p.Asn58Lys
- rs397507506
- ClinGen CA235313
- cosmic curated COSV61010
- ClinVar RCV000037629
- Pathogenic/Likely pathogenic
- PTPN11-related disorder; LEOPARD syndrome 1; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.26
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (PTPN11-related disorder; LEOPARD syndrome 1; Noonan syndrome 1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five… (PMID 12634870)
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)