R124K (p.Arg124Lys) variant of STAT2 (P52630)
R124K (p.Arg124Lys) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R124K (p.Arg124Lys) variant details
- p.Arg124Lys
- ExAC rs781396589
- gnomAD rs781396589
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.09
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available