W33C (p.Trp33Cys) variant of STAT6 (P42226)
W33C (p.Trp33Cys) 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.
W33C (p.Trp33Cys) variant details
- p.Trp33Cys
- ExAC rs768725046
- gnomAD rs768725046
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.65
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available