N58H (p.Asn58His) variant of PTPN11 (Q06124)
N58H (p.Asn58His) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; RASopathy; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
N58H (p.Asn58His) variant details
- p.Asn58His
- rs397507505
- ClinGen CA235310
- cosmic curated COSV10969
- ClinVar RCV000037626
- Pathogenic
- not provided; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.93
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.22
- ClinVar: Pathogenic (not provided; RASopathy; Noonan syndrome)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)