I35T (p.Ile35Thr) variant of JAK2 (Tyrosine-protein kinase JAK2)
I35T (p.Ile35Thr) in JAK2 (Tyrosine-protein kinase JAK2) 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 0.15 / 1. The record also includes population frequency data and structural context.
I35T (p.Ile35Thr) variant details
- p.Ile35Thr
- rs761588246
- ClinGen CA4971483
- ClinVar RCV002603513
- ExAC rs761588246
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.09
- AlphaMissense 0.05
- MetaLR 0.16
- MetaSVM -0.99
- CADD 9.61
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available