R27Q (p.Arg27Gln) variant of STAT6 (P42226)
R27Q (p.Arg27Gln) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- gnomAD rs1299643349
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.80
- AlphaMissense 0.92
- MetaLR 0.29
- MetaSVM -0.50
- CADD 28.10
- PolyPhen-2 0.59
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available