F114L (p.Phe114Leu) variant of STAT6 (P42226)
F114L (p.Phe114Leu) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
F114L (p.Phe114Leu) variant details
- p.Phe114Leu
- TOPMed rs1414157057
- gnomAD rs1414157057
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.26
- CADD 11.80
- PolyPhen-2 0.44
- SIFT 0.65
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available