T2I (p.Thr2Ile) variant of PTPN11 (Q06124)
T2I (p.Thr2Ile) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- rs267606990
- ClinGen CA256764
- ClinVar RCV000014277
- ClinVar RCV000033445
- Pathogenic/Likely pathogenic
- LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.68
- CADD 31.00
- PolyPhen-2 0.07
- SIFT 0.51
- ClinVar: Pathogenic/Likely pathogenic (LEOPARD syndrome 1; Noonan syndrome 1; Metachondromatosis)
- EBI: Pathogenic (in NS1)
- UniProt: Pathogenic (in NS1)
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available
- Cited in: Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. (PMID 12960218)
- Cited in: Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. (PMID 15948193)