H100L (p.His100Leu) variant of STAT4 (Q14765)
H100L (p.His100Leu) in STAT4 (Q14765) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H100L (p.His100Leu) variant details
- p.His100Leu
- gnomAD rs1267779076
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.31
- MetaLR 0.07
- MetaSVM -1.06
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.31
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.8e-05)
- Structural context available