G268S (p.Gly268Ser) variant of PTPN11 (Q06124)
G268S (p.Gly268Ser) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Metachondromatosis; Juvenile myelomonocytic leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G268S (p.Gly268Ser) variant details
- p.Gly268Ser
- rs397507527
- ClinGen CA261594
- cosmic curated COSV61007
- ClinVar RCV000037659
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Metachondromatosis; Juvenile myelomonocytic leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Metachondromatosis; Juvenile myelomono)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)