G60A (p.Gly60Ala) variant of PTPN11 (Q06124)
G60A (p.Gly60Ala) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; Cardiovasc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- rs397507509
- ClinGen CA261562
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6100
- Pathogenic
- PTPN11-related disorder; Noonan syndrome and Noonan-related syndrome; Cardiovasc
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (PTPN11-related disorder; Noonan syndrome and Noonan-related synd)
- 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: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. (PMID 11992261)
- Cited in: Noonan Syndrome. (PMID 20301303)