D61G (p.Asp61Gly) variant of PTPN11 (Q06124)
D61G (p.Asp61Gly) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; Juvenile myelomo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D61G (p.Asp61Gly) variant details
- p.Asp61Gly
- rs121918461
- ClinGen CA177665
- cosmic curated COSV61005
- ClinVar RCV000014258
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; Juvenile myelomo
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.87
- CADD 28.00
- PolyPhen-2 0.82
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1;)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. (PMID 11704759)
- Cited in: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)