T147K (p.Thr147Lys) variant of STAT5B (P51692)
T147K (p.Thr147Lys) in STAT5B (P51692) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T147K (p.Thr147Lys) variant details
- p.Thr147Lys
- ExAC rs768919211
- TOPMed rs768919211
- gnomAD rs768919211
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.19
- CADD 21.80
- PolyPhen-2 0.16
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available