T85P (p.Thr85Pro) variant of JAK1 (Tyrosine-protein kinase JAK1)
T85P (p.Thr85Pro) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
T85P (p.Thr85Pro) variant details
- p.Thr85Pro
- gnomAD rs1474391816
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.14
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available