H116R (p.His116Arg) variant of STAT6 (P42226)
H116R (p.His116Arg) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H116R (p.His116Arg) variant details
- p.His116Arg
- TOPMed rs1040620463
- gnomAD rs1040620463
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 16.10
- PolyPhen-2 0.14
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available