R108W (p.Arg108Trp) variant of JAK1 (Tyrosine-protein kinase JAK1)
R108W (p.Arg108Trp) 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 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R108W (p.Arg108Trp) variant details
- p.Arg108Trp
- rs766239143
- ClinGen CA893188
- NCI-TCGA Cosmic COSV6108
- ClinVar RCV002829823
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.91
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Base editing screens map mutations affecting interferon-γ signalling in cancer: score 18