Y112C (p.Tyr112Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
Y112C (p.Tyr112Cys) 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 0.75 / 1. The record also includes population frequency data and structural context.
Y112C (p.Tyr112Cys) variant details
- p.Tyr112Cys
- ExAC rs747503301
- gnomAD rs747503301
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- CADD 28.10
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available