R147G (p.Arg147Gly) variant of STAT1 (P42224)
R147G (p.Arg147Gly) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R147G (p.Arg147Gly) variant details
- p.Arg147Gly
- ExAC rs751041198
- gnomAD rs751041198
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available