L18F (p.Leu18Phe) variant of STAT6 (P42226)
L18F (p.Leu18Phe) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- ExAC rs760282046
- gnomAD rs760282046
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available