H122R (p.His122Arg) variant of STAT6 (P42226)
H122R (p.His122Arg) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H122R (p.His122Arg) variant details
- p.His122Arg
- gnomAD 12-57098579-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.84
- Population evidence available
- Structural context available
- Literature evidence available