G503R (p.Gly503Arg) variant of PTPN11 (Q06124)
G503R (p.Gly503Arg) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic short statue; Noonan syndrome and Noonan-related syndrome; Cardiovascu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G503R (p.Gly503Arg) variant details
- p.Gly503Arg
- rs397507545
- ClinGen CA273459
- cosmic curated COSV61005
- ClinVar RCV000033545
- Pathogenic
- Monogenic short statue; Noonan syndrome and Noonan-related syndrome; Cardiovascu
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.99
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS1 and JMML)
- UniProt: Pathogenic (in NS1 and JMML)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)
- Cited in: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (PMID 12960218)