E76Q (p.Glu76Gln) variant of PTPN11 (Q06124)
E76Q (p.Glu76Gln) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- rs121918464
- ClinGen CA297076
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61004
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1;)
- EBI: Pathogenic (in JMML)
- UniProt: Pathogenic (in JMML)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)