D61N (p.Asp61Asn) variant of PTPN11 (Q06124)
D61N (p.Asp61Asn) 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; Cardiovascular phenotype; Noonan syndrome and Noonan-re. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- rs1057517935
- ClinGen CA16042833
- ClinVar RCV000412983
- Ensembl rs1057517935
- Pathogenic
- PTPN11-related disorder; Cardiovascular phenotype; Noonan syndrome and Noonan-re
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.65
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five… (PMID 12634870)