G60S (p.Gly60Ser) variant of PTPN11 (Q06124)
G60S (p.Gly60Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PTPN11-related disorder; Cardiovascular phenotype; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- rs397507507
- ClinGen CA235370
- ClinVar RCV000151684
- ClinVar RCV000157700
- Pathogenic/Likely pathogenic
- PTPN11-related disorder; Cardiovascular phenotype; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.89
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- CADD 29.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (PTPN11-related disorder; Cardiovascular phenotype; Metachondroma)
- EBI: Pathogenic (in myelodysplastic syndrome)
- UniProt: Pathogenic (in myelodysplastic syndrome)
- Most common in the East Asian population (allele frequency 2.5e-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)