R135L (p.Arg135Leu) variant of STAT6 (P42226)
R135L (p.Arg135Leu) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R135L (p.Arg135Leu) variant details
- p.Arg135Leu
- rs760639049
- gnomAD 12-57098558-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0818
- CADD 1.60
- Population evidence available
- Structural context available
- Literature evidence available