G503E (p.Gly503Glu) variant of PTPN11 (Q06124)
G503E (p.Gly503Glu) 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 1; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G503E (p.Gly503Glu) variant details
- p.Gly503Glu
- rs397507546
- ClinGen CA282132
- NCI-TCGA Cosmic COSV6100
- Pathogenic/Likely pathogenic
- Noonan syndrome 1; Juvenile myelomonocytic leukemia; LEOPARD syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- REVEL 0.98
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 29.10
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 1; Juvenile myelomonocytic leukemia; LEOPARD syn)
- EBI: Pathogenic (in NS1 and JMML)
- UniProt: Pathogenic (in NS1 and JMML)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)