T73P (p.Thr73Pro) variant of PTPN11 (Q06124)
T73P (p.Thr73Pro) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; RASopathy; Noonan syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
T73P (p.Thr73Pro) variant details
- p.Thr73Pro
- rs397507513
- ClinGen CA282079
- ClinVar RCV000033474
- ClinVar RCV003152671
- Pathogenic/Likely pathogenic
- not provided; RASopathy; Noonan syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy; Noonan syndrome 1)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)