I38L (p.Ile38Leu) variant of STAT4 (Q14765)
I38L (p.Ile38Leu) in STAT4 (Q14765) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I38L (p.Ile38Leu) variant details
- p.Ile38Leu
- gnomAD rs1294017171
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.83
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available