G60V (p.Gly60Val) variant of PTPN11 (Q06124)
G60V (p.Gly60Val) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; LEOPARD syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- rs397507509
- ClinGen CA284662
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6100
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1; LEOPARD syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Noonan syndrome 1;)
- EBI: Pathogenic (in myelodysplastic syndrome)
- UniProt: Pathogenic (in myelodysplastic syndrome)
- Structural context available
- Cited in: Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. (PMID 12717436)
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)