R135H (p.Arg135His) variant of STAT6 (P42226)
R135H (p.Arg135His) 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.
R135H (p.Arg135His) variant details
- p.Arg135His
- rs760639049
- gnomAD 12-57098558-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0823
- CADD 0.90
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available