L112F (p.Leu112Phe) variant of STAT2 (P52630)
L112F (p.Leu112Phe) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
L112F (p.Leu112Phe) variant details
- p.Leu112Phe
- gnomAD rs1879410797
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.71
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available