T25S (p.Thr25Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
T25S (p.Thr25Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T25S (p.Thr25Ser) variant details
- p.Thr25Ser
- rs767215058
- ClinGen CA893248
- ClinVar RCV001913416
- ExAC rs767215058
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.08
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available