F130C (p.Phe130Cys) variant of STAT6 (P42226)
F130C (p.Phe130Cys) in STAT6 (P42226) is a missense change. 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.
F130C (p.Phe130Cys) variant details
- p.Phe130Cys
- TOPMed rs1222049627
- gnomAD rs1222049627
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.32
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available