R56C (p.Arg56Cys) variant of STAT1 (P42224)
R56C (p.Arg56Cys) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- TOPMed rs541089913
- gnomAD rs541089913
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.07
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available