N58S (p.Asn58Ser) variant of PTPN11 (Q06124)
N58S (p.Asn58Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Noonan syndrome 1; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N58S (p.Asn58Ser) variant details
- p.Asn58Ser
- rs751437780
- ClinGen CA6798530
- cosmic curated COSV61005
- ClinVar RCV000413828
- Conflicting interpretations
- Cardiovascular phenotype; Noonan syndrome 1; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.61
- MetaLR 0.56
- MetaSVM 0.19
- CADD 24.80
- PolyPhen-2 0.41
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Noonan syndrome 1; Metachondromatosis)
- EBI: Likely pathogenic (in NS1)
- UniProt: Likely pathogenic (in NS1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)