G60C (p.Gly60Cys) variant of PTPN11 (Q06124)
G60C (p.Gly60Cys) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital anomaly of kidney and urinary tract; Congenital heart disease; Cardio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
G60C (p.Gly60Cys) variant details
- p.Gly60Cys
- rs397507507
- ClinGen CA215448
- ClinVar RCV000034327
- ClinVar RCV002408501
- Pathogenic/Likely pathogenic
- Congenital anomaly of kidney and urinary tract; Congenital heart disease; Cardio
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Pathogenic/Likely pathogenic (Congenital anomaly of kidney and urinary tract; Congenital heart)
- EBI: Pathogenic (in myelodysplastic syndrome)
- UniProt: Pathogenic (in myelodysplastic syndrome)
- Structural context available