Q256R (p.Gln256Arg) variant of PTPN11 (Q06124)
Q256R (p.Gln256Arg) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Noonan syndrome with multiple lentigines; Noonan syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q256R (p.Gln256Arg) variant details
- p.Gln256Arg
- rs397507523
- ClinGen CA235325
- ClinVar RCV000033497
- ClinVar RCV000157681
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome with multiple lentigines; Noonan syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.75
- MetaLR 0.94
- MetaSVM 1.04
- CADD 24.10
- PolyPhen-2 0.32
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Metachondromatosis; Juvenile myelomono)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)