Y81F (p.Tyr81Phe) variant of JAK1 (Tyrosine-protein kinase JAK1)
Y81F (p.Tyr81Phe) in JAK1 (Tyrosine-protein kinase JAK1) 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 0.29 / 1. The record also includes population frequency data and structural context.
Y81F (p.Tyr81Phe) variant details
- p.Tyr81Phe
- 1000Genomes rs529625257
- ExAC rs529625257
- gnomAD rs529625257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.16
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available