R93C (p.Arg93Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
R93C (p.Arg93Cys) 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 0.46 / 1. The record also includes population frequency data and structural context.
R93C (p.Arg93Cys) variant details
- p.Arg93Cys
- rs768706312
- ClinGen CA893202
- ClinVar RCV002017769
- ExAC rs768706312
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.32
- CADD 24.60
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available