Y89C (p.Tyr89Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
Y89C (p.Tyr89Cys) 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 0.67 / 1. The record also includes population frequency data and structural context.
Y89C (p.Tyr89Cys) variant details
- p.Tyr89Cys
- rs774563390
- ClinGen CA893203
- ClinVar RCV001979113
- ExAC rs774563390
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.79
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available