E139D (p.Glu139Asp) variant of PTPN11 (Q06124)
E139D (p.Glu139Asp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E139D (p.Glu139Asp) variant details
- p.Glu139Asp
- rs397507520
- ClinGen CA261590
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61007
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.77
- MetaLR 0.71
- MetaSVM 0.44
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Pathogenic (Noonan syndrome)
- 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)