E69Q (p.Glu69Gln) variant of PTPN11 (Q06124)
E69Q (p.Glu69Gln) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- rs397507511
- ClinGen CA261565
- cosmic curated COSV61009
- ClinVar RCV000033469
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Population evidence available
- Structural context available
- Cited in: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five… (PMID 12634870)
- Cited in: Noonan Syndrome. (PMID 20301303)