G74R (p.Gly74Arg) variant of STAT6 (P42226)
G74R (p.Gly74Arg) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G74R (p.Gly74Arg) variant details
- p.Gly74Arg
- TOPMed rs1220734568
- gnomAD rs1220734568
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.88
- SIFT 0.30
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available