E76D (p.Glu76Asp) variant of PTPN11 (Q06124)
E76D (p.Glu76Asp) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiovascular phenotype; not provided; Autosomal dominant PTPN11-related disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- rs397507514
- ClinGen CA261577
- ClinVar RCV000033479
- ClinVar RCV000037638
- Pathogenic
- Cardiovascular phenotype; not provided; Autosomal dominant PTPN11-related disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.70
- MetaLR 0.78
- MetaSVM 0.29
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.05
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Autosomal dominant PTPN1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)