N58D (p.Asn58Asp) variant of PTPN11 (Q06124)
N58D (p.Asn58Asp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; Male infer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
N58D (p.Asn58Asp) variant details
- p.Asn58Asp
- rs397507505
- ClinGen CA261558
- cosmic curated COSV10818
- ClinVar RCV000033455
- Pathogenic
- PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; Male infer
- 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 (PTPN11-related disorder; Noonan syndrome and Noonan-related synd)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)