T52I (p.Thr52Ile) variant of PTPN11 (Q06124)
T52I (p.Thr52Ile) in PTPN11 (Q06124) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- rs397507503
- ClinGen CA261555
- NCI-TCGA Cosmic COSV6100
- NCI-TCGA Cosmic COSV6101
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.91
- MetaLR 0.78
- MetaSVM 0.68
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)