T202M (p.Thr202Met) variant of STAT5B (P51692)
T202M (p.Thr202Met) in STAT5B (P51692) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T202M (p.Thr202Met) variant details
- p.Thr202Met
- rs992474490
- NCI-TCGA Cosmic COSV5318
- TOPMed rs992474490
- gnomAD rs992474490
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.15
- CADD 25.20
- PolyPhen-2 0.63
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available